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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs60411282

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:20172793-20172816 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
del(A)14 / del(A)11 / del(A)10 / d…

del(A)14 / del(A)11 / del(A)10 / del(A)9 / del(A)7 / del(A)6 / del(A)5 / del(A)4 / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)4 / dup(A)5 / dup(A)6 / dup(A)7 / dup(A)9 / dup(A)10 / dup(A)11 / dup(A)12 / dup(A)13 / dup(A)14

Variation Type
Indel Insertion and Deletion
Frequency
dupA=0.2058 (1924/9351, ALFA)
(A)24=0.45 (18/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SGO1 : Intron Variant
SGO1-AS1 : 2KB Upstream Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 9351 AAAAAAAAAAAAAAAAAAAAAAAA=0.7610 AAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.2058, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0095, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0215, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0015, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0007, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 0.710251 0.11959 0.170159 32
European Sub 8825 AAAAAAAAAAAAAAAAAAAAAAAA=0.7473 AAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.2175, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0101, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0228, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0016, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0008, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 0.692755 0.126969 0.180276 32
African Sub 294 AAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 12 AAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 282 AAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 6 AAAAAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
East Asian Sub 2 AAAAAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Other Asian Sub 4 AAAAAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 46 AAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 60 AAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
South Asian Sub 16 AAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 104 AAAAAAAAAAAAAAAAAAAAAAAA=0.952 AAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.048, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 0.923077 0.019231 0.057692 4


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
Allele Frequency Aggregator Total Global 9351 (A)24=0.7610 del(A)14=0.0000, del(A)11=0.0000, del(A)9=0.0000, del(A)7=0.0000, del(A)6=0.0000, del(A)5=0.0000, delAA=0.0000, delA=0.0000, dupA=0.2058, dupAA=0.0095, dupAAA=0.0215, dup(A)4=0.0007, dup(A)6=0.0000, dup(A)7=0.0000, dup(A)11=0.0015
Allele Frequency Aggregator European Sub 8825 (A)24=0.7473 del(A)14=0.0000, del(A)11=0.0000, del(A)9=0.0000, del(A)7=0.0000, del(A)6=0.0000, del(A)5=0.0000, delAA=0.0000, delA=0.0000, dupA=0.2175, dupAA=0.0101, dupAAA=0.0228, dup(A)4=0.0008, dup(A)6=0.0000, dup(A)7=0.0000, dup(A)11=0.0016
Allele Frequency Aggregator African Sub 294 (A)24=1.000 del(A)14=0.000, del(A)11=0.000, del(A)9=0.000, del(A)7=0.000, del(A)6=0.000, del(A)5=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000, dup(A)6=0.000, dup(A)7=0.000, dup(A)11=0.000
Allele Frequency Aggregator Other Sub 104 (A)24=0.952 del(A)14=0.000, del(A)11=0.000, del(A)9=0.000, del(A)7=0.000, del(A)6=0.000, del(A)5=0.000, delAA=0.000, delA=0.000, dupA=0.048, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000, dup(A)6=0.000, dup(A)7=0.000, dup(A)11=0.000
Allele Frequency Aggregator Latin American 2 Sub 60 (A)24=1.00 del(A)14=0.00, del(A)11=0.00, del(A)9=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00, dup(A)6=0.00, dup(A)7=0.00, dup(A)11=0.00
Allele Frequency Aggregator Latin American 1 Sub 46 (A)24=1.00 del(A)14=0.00, del(A)11=0.00, del(A)9=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00, dup(A)6=0.00, dup(A)7=0.00, dup(A)11=0.00
Allele Frequency Aggregator South Asian Sub 16 (A)24=1.00 del(A)14=0.00, del(A)11=0.00, del(A)9=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00, dup(A)6=0.00, dup(A)7=0.00, dup(A)11=0.00
Allele Frequency Aggregator Asian Sub 6 (A)24=1.0 del(A)14=0.0, del(A)11=0.0, del(A)9=0.0, del(A)7=0.0, del(A)6=0.0, del(A)5=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)4=0.0, dup(A)6=0.0, dup(A)7=0.0, dup(A)11=0.0
The Danish reference pan genome Danish Study-wide 40 -

No frequency provided

dupA=0.55
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 3 NC_000003.12:g.20172803_20172816del
GRCh38.p14 chr 3 NC_000003.12:g.20172806_20172816del
GRCh38.p14 chr 3 NC_000003.12:g.20172807_20172816del
GRCh38.p14 chr 3 NC_000003.12:g.20172808_20172816del
GRCh38.p14 chr 3 NC_000003.12:g.20172810_20172816del
GRCh38.p14 chr 3 NC_000003.12:g.20172811_20172816del
GRCh38.p14 chr 3 NC_000003.12:g.20172812_20172816del
GRCh38.p14 chr 3 NC_000003.12:g.20172813_20172816del
GRCh38.p14 chr 3 NC_000003.12:g.20172814_20172816del
GRCh38.p14 chr 3 NC_000003.12:g.20172815_20172816del
GRCh38.p14 chr 3 NC_000003.12:g.20172816del
GRCh38.p14 chr 3 NC_000003.12:g.20172816dup
GRCh38.p14 chr 3 NC_000003.12:g.20172815_20172816dup
GRCh38.p14 chr 3 NC_000003.12:g.20172814_20172816dup
GRCh38.p14 chr 3 NC_000003.12:g.20172813_20172816dup
GRCh38.p14 chr 3 NC_000003.12:g.20172812_20172816dup
GRCh38.p14 chr 3 NC_000003.12:g.20172811_20172816dup
GRCh38.p14 chr 3 NC_000003.12:g.20172810_20172816dup
GRCh38.p14 chr 3 NC_000003.12:g.20172808_20172816dup
GRCh38.p14 chr 3 NC_000003.12:g.20172807_20172816dup
GRCh38.p14 chr 3 NC_000003.12:g.20172806_20172816dup
GRCh38.p14 chr 3 NC_000003.12:g.20172805_20172816dup
GRCh38.p14 chr 3 NC_000003.12:g.20172804_20172816dup
GRCh38.p14 chr 3 NC_000003.12:g.20172803_20172816dup
GRCh37.p13 chr 3 NC_000003.11:g.20214295_20214308del
GRCh37.p13 chr 3 NC_000003.11:g.20214298_20214308del
GRCh37.p13 chr 3 NC_000003.11:g.20214299_20214308del
GRCh37.p13 chr 3 NC_000003.11:g.20214300_20214308del
GRCh37.p13 chr 3 NC_000003.11:g.20214302_20214308del
GRCh37.p13 chr 3 NC_000003.11:g.20214303_20214308del
GRCh37.p13 chr 3 NC_000003.11:g.20214304_20214308del
GRCh37.p13 chr 3 NC_000003.11:g.20214305_20214308del
GRCh37.p13 chr 3 NC_000003.11:g.20214306_20214308del
GRCh37.p13 chr 3 NC_000003.11:g.20214307_20214308del
GRCh37.p13 chr 3 NC_000003.11:g.20214308del
GRCh37.p13 chr 3 NC_000003.11:g.20214308dup
GRCh37.p13 chr 3 NC_000003.11:g.20214307_20214308dup
GRCh37.p13 chr 3 NC_000003.11:g.20214306_20214308dup
GRCh37.p13 chr 3 NC_000003.11:g.20214305_20214308dup
GRCh37.p13 chr 3 NC_000003.11:g.20214304_20214308dup
GRCh37.p13 chr 3 NC_000003.11:g.20214303_20214308dup
GRCh37.p13 chr 3 NC_000003.11:g.20214302_20214308dup
GRCh37.p13 chr 3 NC_000003.11:g.20214300_20214308dup
GRCh37.p13 chr 3 NC_000003.11:g.20214299_20214308dup
GRCh37.p13 chr 3 NC_000003.11:g.20214298_20214308dup
GRCh37.p13 chr 3 NC_000003.11:g.20214297_20214308dup
GRCh37.p13 chr 3 NC_000003.11:g.20214296_20214308dup
GRCh37.p13 chr 3 NC_000003.11:g.20214295_20214308dup
SGO1 RefSeqGene NG_042062.1:g.18426_18439del
SGO1 RefSeqGene NG_042062.1:g.18429_18439del
SGO1 RefSeqGene NG_042062.1:g.18430_18439del
SGO1 RefSeqGene NG_042062.1:g.18431_18439del
SGO1 RefSeqGene NG_042062.1:g.18433_18439del
SGO1 RefSeqGene NG_042062.1:g.18434_18439del
SGO1 RefSeqGene NG_042062.1:g.18435_18439del
SGO1 RefSeqGene NG_042062.1:g.18436_18439del
SGO1 RefSeqGene NG_042062.1:g.18437_18439del
SGO1 RefSeqGene NG_042062.1:g.18438_18439del
SGO1 RefSeqGene NG_042062.1:g.18439del
SGO1 RefSeqGene NG_042062.1:g.18439dup
SGO1 RefSeqGene NG_042062.1:g.18438_18439dup
SGO1 RefSeqGene NG_042062.1:g.18437_18439dup
SGO1 RefSeqGene NG_042062.1:g.18436_18439dup
SGO1 RefSeqGene NG_042062.1:g.18435_18439dup
SGO1 RefSeqGene NG_042062.1:g.18434_18439dup
SGO1 RefSeqGene NG_042062.1:g.18433_18439dup
SGO1 RefSeqGene NG_042062.1:g.18431_18439dup
SGO1 RefSeqGene NG_042062.1:g.18430_18439dup
SGO1 RefSeqGene NG_042062.1:g.18429_18439dup
SGO1 RefSeqGene NG_042062.1:g.18428_18439dup
SGO1 RefSeqGene NG_042062.1:g.18427_18439dup
SGO1 RefSeqGene NG_042062.1:g.18426_18439dup
Gene: SGO1, shugoshin 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SGO1 transcript variant A1 NM_001012409.4:c.1282+144…

NM_001012409.4:c.1282+1443_1282+1456del

N/A Intron Variant
SGO1 transcript variant Sgo1F NM_001012410.5:c.1282+144…

NM_001012410.5:c.1282+1443_1282+1456del

N/A Intron Variant
SGO1 transcript variant Sgo1C NM_001012411.4:c.527-1574…

NM_001012411.4:c.527-1574_527-1561del

N/A Intron Variant
SGO1 transcript variant Sgo1H NM_001012412.5:c.527-1574…

NM_001012412.5:c.527-1574_527-1561del

N/A Intron Variant
SGO1 transcript variant Sgo1B NM_001012413.4:c.476-1574…

NM_001012413.4:c.476-1574_476-1561del

N/A Intron Variant
SGO1 transcript variant 1 NM_001199251.3:c.1282+144…

NM_001199251.3:c.1282+1443_1282+1456del

N/A Intron Variant
SGO1 transcript variant Sgo1E NM_001199252.3:c.1282+144…

NM_001199252.3:c.1282+1443_1282+1456del

N/A Intron Variant
SGO1 transcript variant Sgo1D NM_001199253.3:c.527-1574…

NM_001199253.3:c.527-1574_527-1561del

N/A Intron Variant
SGO1 transcript variant Sgo1G NM_001199254.3:c.527-1574…

NM_001199254.3:c.527-1574_527-1561del

N/A Intron Variant
SGO1 transcript variant Sgo1A NM_001199255.3:c.476-1574…

NM_001199255.3:c.476-1574_476-1561del

N/A Intron Variant
SGO1 transcript variant Sgo1K NM_001199256.3:c.476-1574…

NM_001199256.3:c.476-1574_476-1561del

N/A Intron Variant
SGO1 transcript variant Sgo1J NM_001199257.3:c.526+2199…

NM_001199257.3:c.526+2199_526+2212del

N/A Intron Variant
SGO1 transcript variant Sgo1L NM_138484.5:c.476-1574_47…

NM_138484.5:c.476-1574_476-1561del

N/A Intron Variant
SGO1 transcript variant 14 NR_131179.2:n. N/A Intron Variant
SGO1 transcript variant 15 NR_131180.2:n. N/A Intron Variant
SGO1 transcript variant X1 XM_011533373.3:c.1282+144…

XM_011533373.3:c.1282+1443_1282+1456del

N/A Intron Variant
SGO1 transcript variant X3 XM_011533375.3:c.1282+144…

XM_011533375.3:c.1282+1443_1282+1456del

N/A Intron Variant
SGO1 transcript variant X2 XM_011533376.3:c.1282+144…

XM_011533376.3:c.1282+1443_1282+1456del

N/A Intron Variant
SGO1 transcript variant X4 XM_011533377.3:c.1282+144…

XM_011533377.3:c.1282+1443_1282+1456del

N/A Intron Variant
SGO1 transcript variant X5 XM_047447486.1:c.527-1574…

XM_047447486.1:c.527-1574_527-1561del

N/A Intron Variant
SGO1 transcript variant X6 XM_047447487.1:c.476-1574…

XM_047447487.1:c.476-1574_476-1561del

N/A Intron Variant
SGO1 transcript variant X7 XM_047447488.1:c.527-1574…

XM_047447488.1:c.527-1574_527-1561del

N/A Intron Variant
SGO1 transcript variant X8 XM_047447489.1:c.476-1574…

XM_047447489.1:c.476-1574_476-1561del

N/A Intron Variant
SGO1 transcript variant X9 XM_047447490.1:c.476-1574…

XM_047447490.1:c.476-1574_476-1561del

N/A Intron Variant
Gene: SGO1-AS1, SGO1 antisense RNA 1 (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
SGO1-AS1 transcript NR_132785.1:n. N/A Upstream Transcript Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement (A)24= del(A)14 del(A)11 del(A)10 del(A)9 del(A)7 del(A)6 del(A)5 del(A)4 delAAA delAA delA dupA dupAA dupAAA dup(A)4 dup(A)5 dup(A)6 dup(A)7 dup(A)9 dup(A)10 dup(A)11 dup(A)12 dup(A)13 dup(A)14
GRCh38.p14 chr 3 NC_000003.12:g.20172793_20172816= NC_000003.12:g.20172803_20172816del NC_000003.12:g.20172806_20172816del NC_000003.12:g.20172807_20172816del NC_000003.12:g.20172808_20172816del NC_000003.12:g.20172810_20172816del NC_000003.12:g.20172811_20172816del NC_000003.12:g.20172812_20172816del NC_000003.12:g.20172813_20172816del NC_000003.12:g.20172814_20172816del NC_000003.12:g.20172815_20172816del NC_000003.12:g.20172816del NC_000003.12:g.20172816dup NC_000003.12:g.20172815_20172816dup NC_000003.12:g.20172814_20172816dup NC_000003.12:g.20172813_20172816dup NC_000003.12:g.20172812_20172816dup NC_000003.12:g.20172811_20172816dup NC_000003.12:g.20172810_20172816dup NC_000003.12:g.20172808_20172816dup NC_000003.12:g.20172807_20172816dup NC_000003.12:g.20172806_20172816dup NC_000003.12:g.20172805_20172816dup NC_000003.12:g.20172804_20172816dup NC_000003.12:g.20172803_20172816dup
GRCh37.p13 chr 3 NC_000003.11:g.20214285_20214308= NC_000003.11:g.20214295_20214308del NC_000003.11:g.20214298_20214308del NC_000003.11:g.20214299_20214308del NC_000003.11:g.20214300_20214308del NC_000003.11:g.20214302_20214308del NC_000003.11:g.20214303_20214308del NC_000003.11:g.20214304_20214308del NC_000003.11:g.20214305_20214308del NC_000003.11:g.20214306_20214308del NC_000003.11:g.20214307_20214308del NC_000003.11:g.20214308del NC_000003.11:g.20214308dup NC_000003.11:g.20214307_20214308dup NC_000003.11:g.20214306_20214308dup NC_000003.11:g.20214305_20214308dup NC_000003.11:g.20214304_20214308dup NC_000003.11:g.20214303_20214308dup NC_000003.11:g.20214302_20214308dup NC_000003.11:g.20214300_20214308dup NC_000003.11:g.20214299_20214308dup NC_000003.11:g.20214298_20214308dup NC_000003.11:g.20214297_20214308dup NC_000003.11:g.20214296_20214308dup NC_000003.11:g.20214295_20214308dup
SGO1 RefSeqGene NG_042062.1:g.18416_18439= NG_042062.1:g.18426_18439del NG_042062.1:g.18429_18439del NG_042062.1:g.18430_18439del NG_042062.1:g.18431_18439del NG_042062.1:g.18433_18439del NG_042062.1:g.18434_18439del NG_042062.1:g.18435_18439del NG_042062.1:g.18436_18439del NG_042062.1:g.18437_18439del NG_042062.1:g.18438_18439del NG_042062.1:g.18439del NG_042062.1:g.18439dup NG_042062.1:g.18438_18439dup NG_042062.1:g.18437_18439dup NG_042062.1:g.18436_18439dup NG_042062.1:g.18435_18439dup NG_042062.1:g.18434_18439dup NG_042062.1:g.18433_18439dup NG_042062.1:g.18431_18439dup NG_042062.1:g.18430_18439dup NG_042062.1:g.18429_18439dup NG_042062.1:g.18428_18439dup NG_042062.1:g.18427_18439dup NG_042062.1:g.18426_18439dup
SGOL1 transcript variant A1 NM_001012409.2:c.1282+1456= NM_001012409.2:c.1282+1443_1282+1456del NM_001012409.2:c.1282+1446_1282+1456del NM_001012409.2:c.1282+1447_1282+1456del NM_001012409.2:c.1282+1448_1282+1456del NM_001012409.2:c.1282+1450_1282+1456del NM_001012409.2:c.1282+1451_1282+1456del NM_001012409.2:c.1282+1452_1282+1456del NM_001012409.2:c.1282+1453_1282+1456del NM_001012409.2:c.1282+1454_1282+1456del NM_001012409.2:c.1282+1455_1282+1456del NM_001012409.2:c.1282+1456del NM_001012409.2:c.1282+1456dup NM_001012409.2:c.1282+1455_1282+1456dup NM_001012409.2:c.1282+1454_1282+1456dup NM_001012409.2:c.1282+1453_1282+1456dup NM_001012409.2:c.1282+1452_1282+1456dup NM_001012409.2:c.1282+1451_1282+1456dup NM_001012409.2:c.1282+1450_1282+1456dup NM_001012409.2:c.1282+1448_1282+1456dup NM_001012409.2:c.1282+1447_1282+1456dup NM_001012409.2:c.1282+1446_1282+1456dup NM_001012409.2:c.1282+1445_1282+1456dup NM_001012409.2:c.1282+1444_1282+1456dup NM_001012409.2:c.1282+1443_1282+1456dup
SGO1 transcript variant A1 NM_001012409.4:c.1282+1456= NM_001012409.4:c.1282+1443_1282+1456del NM_001012409.4:c.1282+1446_1282+1456del NM_001012409.4:c.1282+1447_1282+1456del NM_001012409.4:c.1282+1448_1282+1456del NM_001012409.4:c.1282+1450_1282+1456del NM_001012409.4:c.1282+1451_1282+1456del NM_001012409.4:c.1282+1452_1282+1456del NM_001012409.4:c.1282+1453_1282+1456del NM_001012409.4:c.1282+1454_1282+1456del NM_001012409.4:c.1282+1455_1282+1456del NM_001012409.4:c.1282+1456del NM_001012409.4:c.1282+1456dup NM_001012409.4:c.1282+1455_1282+1456dup NM_001012409.4:c.1282+1454_1282+1456dup NM_001012409.4:c.1282+1453_1282+1456dup NM_001012409.4:c.1282+1452_1282+1456dup NM_001012409.4:c.1282+1451_1282+1456dup NM_001012409.4:c.1282+1450_1282+1456dup NM_001012409.4:c.1282+1448_1282+1456dup NM_001012409.4:c.1282+1447_1282+1456dup NM_001012409.4:c.1282+1446_1282+1456dup NM_001012409.4:c.1282+1445_1282+1456dup NM_001012409.4:c.1282+1444_1282+1456dup NM_001012409.4:c.1282+1443_1282+1456dup
SGOL1 transcript variant A2 NM_001012410.3:c.1282+1456= NM_001012410.3:c.1282+1443_1282+1456del NM_001012410.3:c.1282+1446_1282+1456del NM_001012410.3:c.1282+1447_1282+1456del NM_001012410.3:c.1282+1448_1282+1456del NM_001012410.3:c.1282+1450_1282+1456del NM_001012410.3:c.1282+1451_1282+1456del NM_001012410.3:c.1282+1452_1282+1456del NM_001012410.3:c.1282+1453_1282+1456del NM_001012410.3:c.1282+1454_1282+1456del NM_001012410.3:c.1282+1455_1282+1456del NM_001012410.3:c.1282+1456del NM_001012410.3:c.1282+1456dup NM_001012410.3:c.1282+1455_1282+1456dup NM_001012410.3:c.1282+1454_1282+1456dup NM_001012410.3:c.1282+1453_1282+1456dup NM_001012410.3:c.1282+1452_1282+1456dup NM_001012410.3:c.1282+1451_1282+1456dup NM_001012410.3:c.1282+1450_1282+1456dup NM_001012410.3:c.1282+1448_1282+1456dup NM_001012410.3:c.1282+1447_1282+1456dup NM_001012410.3:c.1282+1446_1282+1456dup NM_001012410.3:c.1282+1445_1282+1456dup NM_001012410.3:c.1282+1444_1282+1456dup NM_001012410.3:c.1282+1443_1282+1456dup
SGO1 transcript variant Sgo1F NM_001012410.5:c.1282+1456= NM_001012410.5:c.1282+1443_1282+1456del NM_001012410.5:c.1282+1446_1282+1456del NM_001012410.5:c.1282+1447_1282+1456del NM_001012410.5:c.1282+1448_1282+1456del NM_001012410.5:c.1282+1450_1282+1456del NM_001012410.5:c.1282+1451_1282+1456del NM_001012410.5:c.1282+1452_1282+1456del NM_001012410.5:c.1282+1453_1282+1456del NM_001012410.5:c.1282+1454_1282+1456del NM_001012410.5:c.1282+1455_1282+1456del NM_001012410.5:c.1282+1456del NM_001012410.5:c.1282+1456dup NM_001012410.5:c.1282+1455_1282+1456dup NM_001012410.5:c.1282+1454_1282+1456dup NM_001012410.5:c.1282+1453_1282+1456dup NM_001012410.5:c.1282+1452_1282+1456dup NM_001012410.5:c.1282+1451_1282+1456dup NM_001012410.5:c.1282+1450_1282+1456dup NM_001012410.5:c.1282+1448_1282+1456dup NM_001012410.5:c.1282+1447_1282+1456dup NM_001012410.5:c.1282+1446_1282+1456dup NM_001012410.5:c.1282+1445_1282+1456dup NM_001012410.5:c.1282+1444_1282+1456dup NM_001012410.5:c.1282+1443_1282+1456dup
SGOL1 transcript variant B1 NM_001012411.2:c.527-1561= NM_001012411.2:c.527-1574_527-1561del NM_001012411.2:c.527-1571_527-1561del NM_001012411.2:c.527-1570_527-1561del NM_001012411.2:c.527-1569_527-1561del NM_001012411.2:c.527-1567_527-1561del NM_001012411.2:c.527-1566_527-1561del NM_001012411.2:c.527-1565_527-1561del NM_001012411.2:c.527-1564_527-1561del NM_001012411.2:c.527-1563_527-1561del NM_001012411.2:c.527-1562_527-1561del NM_001012411.2:c.527-1561del NM_001012411.2:c.527-1561dup NM_001012411.2:c.527-1562_527-1561dup NM_001012411.2:c.527-1563_527-1561dup NM_001012411.2:c.527-1564_527-1561dup NM_001012411.2:c.527-1565_527-1561dup NM_001012411.2:c.527-1566_527-1561dup NM_001012411.2:c.527-1567_527-1561dup NM_001012411.2:c.527-1569_527-1561dup NM_001012411.2:c.527-1570_527-1561dup NM_001012411.2:c.527-1571_527-1561dup NM_001012411.2:c.527-1572_527-1561dup NM_001012411.2:c.527-1573_527-1561dup NM_001012411.2:c.527-1574_527-1561dup
SGO1 transcript variant Sgo1C NM_001012411.4:c.527-1561= NM_001012411.4:c.527-1574_527-1561del NM_001012411.4:c.527-1571_527-1561del NM_001012411.4:c.527-1570_527-1561del NM_001012411.4:c.527-1569_527-1561del NM_001012411.4:c.527-1567_527-1561del NM_001012411.4:c.527-1566_527-1561del NM_001012411.4:c.527-1565_527-1561del NM_001012411.4:c.527-1564_527-1561del NM_001012411.4:c.527-1563_527-1561del NM_001012411.4:c.527-1562_527-1561del NM_001012411.4:c.527-1561del NM_001012411.4:c.527-1561dup NM_001012411.4:c.527-1562_527-1561dup NM_001012411.4:c.527-1563_527-1561dup NM_001012411.4:c.527-1564_527-1561dup NM_001012411.4:c.527-1565_527-1561dup NM_001012411.4:c.527-1566_527-1561dup NM_001012411.4:c.527-1567_527-1561dup NM_001012411.4:c.527-1569_527-1561dup NM_001012411.4:c.527-1570_527-1561dup NM_001012411.4:c.527-1571_527-1561dup NM_001012411.4:c.527-1572_527-1561dup NM_001012411.4:c.527-1573_527-1561dup NM_001012411.4:c.527-1574_527-1561dup
SGOL1 transcript variant B2 NM_001012412.3:c.527-1561= NM_001012412.3:c.527-1574_527-1561del NM_001012412.3:c.527-1571_527-1561del NM_001012412.3:c.527-1570_527-1561del NM_001012412.3:c.527-1569_527-1561del NM_001012412.3:c.527-1567_527-1561del NM_001012412.3:c.527-1566_527-1561del NM_001012412.3:c.527-1565_527-1561del NM_001012412.3:c.527-1564_527-1561del NM_001012412.3:c.527-1563_527-1561del NM_001012412.3:c.527-1562_527-1561del NM_001012412.3:c.527-1561del NM_001012412.3:c.527-1561dup NM_001012412.3:c.527-1562_527-1561dup NM_001012412.3:c.527-1563_527-1561dup NM_001012412.3:c.527-1564_527-1561dup NM_001012412.3:c.527-1565_527-1561dup NM_001012412.3:c.527-1566_527-1561dup NM_001012412.3:c.527-1567_527-1561dup NM_001012412.3:c.527-1569_527-1561dup NM_001012412.3:c.527-1570_527-1561dup NM_001012412.3:c.527-1571_527-1561dup NM_001012412.3:c.527-1572_527-1561dup NM_001012412.3:c.527-1573_527-1561dup NM_001012412.3:c.527-1574_527-1561dup
SGO1 transcript variant Sgo1H NM_001012412.5:c.527-1561= NM_001012412.5:c.527-1574_527-1561del NM_001012412.5:c.527-1571_527-1561del NM_001012412.5:c.527-1570_527-1561del NM_001012412.5:c.527-1569_527-1561del NM_001012412.5:c.527-1567_527-1561del NM_001012412.5:c.527-1566_527-1561del NM_001012412.5:c.527-1565_527-1561del NM_001012412.5:c.527-1564_527-1561del NM_001012412.5:c.527-1563_527-1561del NM_001012412.5:c.527-1562_527-1561del NM_001012412.5:c.527-1561del NM_001012412.5:c.527-1561dup NM_001012412.5:c.527-1562_527-1561dup NM_001012412.5:c.527-1563_527-1561dup NM_001012412.5:c.527-1564_527-1561dup NM_001012412.5:c.527-1565_527-1561dup NM_001012412.5:c.527-1566_527-1561dup NM_001012412.5:c.527-1567_527-1561dup NM_001012412.5:c.527-1569_527-1561dup NM_001012412.5:c.527-1570_527-1561dup NM_001012412.5:c.527-1571_527-1561dup NM_001012412.5:c.527-1572_527-1561dup NM_001012412.5:c.527-1573_527-1561dup NM_001012412.5:c.527-1574_527-1561dup
SGOL1 transcript variant C1 NM_001012413.2:c.476-1561= NM_001012413.2:c.476-1574_476-1561del NM_001012413.2:c.476-1571_476-1561del NM_001012413.2:c.476-1570_476-1561del NM_001012413.2:c.476-1569_476-1561del NM_001012413.2:c.476-1567_476-1561del NM_001012413.2:c.476-1566_476-1561del NM_001012413.2:c.476-1565_476-1561del NM_001012413.2:c.476-1564_476-1561del NM_001012413.2:c.476-1563_476-1561del NM_001012413.2:c.476-1562_476-1561del NM_001012413.2:c.476-1561del NM_001012413.2:c.476-1561dup NM_001012413.2:c.476-1562_476-1561dup NM_001012413.2:c.476-1563_476-1561dup NM_001012413.2:c.476-1564_476-1561dup NM_001012413.2:c.476-1565_476-1561dup NM_001012413.2:c.476-1566_476-1561dup NM_001012413.2:c.476-1567_476-1561dup NM_001012413.2:c.476-1569_476-1561dup NM_001012413.2:c.476-1570_476-1561dup NM_001012413.2:c.476-1571_476-1561dup NM_001012413.2:c.476-1572_476-1561dup NM_001012413.2:c.476-1573_476-1561dup NM_001012413.2:c.476-1574_476-1561dup
SGO1 transcript variant Sgo1B NM_001012413.4:c.476-1561= NM_001012413.4:c.476-1574_476-1561del NM_001012413.4:c.476-1571_476-1561del NM_001012413.4:c.476-1570_476-1561del NM_001012413.4:c.476-1569_476-1561del NM_001012413.4:c.476-1567_476-1561del NM_001012413.4:c.476-1566_476-1561del NM_001012413.4:c.476-1565_476-1561del NM_001012413.4:c.476-1564_476-1561del NM_001012413.4:c.476-1563_476-1561del NM_001012413.4:c.476-1562_476-1561del NM_001012413.4:c.476-1561del NM_001012413.4:c.476-1561dup NM_001012413.4:c.476-1562_476-1561dup NM_001012413.4:c.476-1563_476-1561dup NM_001012413.4:c.476-1564_476-1561dup NM_001012413.4:c.476-1565_476-1561dup NM_001012413.4:c.476-1566_476-1561dup NM_001012413.4:c.476-1567_476-1561dup NM_001012413.4:c.476-1569_476-1561dup NM_001012413.4:c.476-1570_476-1561dup NM_001012413.4:c.476-1571_476-1561dup NM_001012413.4:c.476-1572_476-1561dup NM_001012413.4:c.476-1573_476-1561dup NM_001012413.4:c.476-1574_476-1561dup
SGOL1 transcript variant A3 NM_001199251.1:c.1282+1456= NM_001199251.1:c.1282+1443_1282+1456del NM_001199251.1:c.1282+1446_1282+1456del NM_001199251.1:c.1282+1447_1282+1456del NM_001199251.1:c.1282+1448_1282+1456del NM_001199251.1:c.1282+1450_1282+1456del NM_001199251.1:c.1282+1451_1282+1456del NM_001199251.1:c.1282+1452_1282+1456del NM_001199251.1:c.1282+1453_1282+1456del NM_001199251.1:c.1282+1454_1282+1456del NM_001199251.1:c.1282+1455_1282+1456del NM_001199251.1:c.1282+1456del NM_001199251.1:c.1282+1456dup NM_001199251.1:c.1282+1455_1282+1456dup NM_001199251.1:c.1282+1454_1282+1456dup NM_001199251.1:c.1282+1453_1282+1456dup NM_001199251.1:c.1282+1452_1282+1456dup NM_001199251.1:c.1282+1451_1282+1456dup NM_001199251.1:c.1282+1450_1282+1456dup NM_001199251.1:c.1282+1448_1282+1456dup NM_001199251.1:c.1282+1447_1282+1456dup NM_001199251.1:c.1282+1446_1282+1456dup NM_001199251.1:c.1282+1445_1282+1456dup NM_001199251.1:c.1282+1444_1282+1456dup NM_001199251.1:c.1282+1443_1282+1456dup
SGO1 transcript variant 1 NM_001199251.3:c.1282+1456= NM_001199251.3:c.1282+1443_1282+1456del NM_001199251.3:c.1282+1446_1282+1456del NM_001199251.3:c.1282+1447_1282+1456del NM_001199251.3:c.1282+1448_1282+1456del NM_001199251.3:c.1282+1450_1282+1456del NM_001199251.3:c.1282+1451_1282+1456del NM_001199251.3:c.1282+1452_1282+1456del NM_001199251.3:c.1282+1453_1282+1456del NM_001199251.3:c.1282+1454_1282+1456del NM_001199251.3:c.1282+1455_1282+1456del NM_001199251.3:c.1282+1456del NM_001199251.3:c.1282+1456dup NM_001199251.3:c.1282+1455_1282+1456dup NM_001199251.3:c.1282+1454_1282+1456dup NM_001199251.3:c.1282+1453_1282+1456dup NM_001199251.3:c.1282+1452_1282+1456dup NM_001199251.3:c.1282+1451_1282+1456dup NM_001199251.3:c.1282+1450_1282+1456dup NM_001199251.3:c.1282+1448_1282+1456dup NM_001199251.3:c.1282+1447_1282+1456dup NM_001199251.3:c.1282+1446_1282+1456dup NM_001199251.3:c.1282+1445_1282+1456dup NM_001199251.3:c.1282+1444_1282+1456dup NM_001199251.3:c.1282+1443_1282+1456dup
SGOL1 transcript variant A4 NM_001199252.1:c.1282+1456= NM_001199252.1:c.1282+1443_1282+1456del NM_001199252.1:c.1282+1446_1282+1456del NM_001199252.1:c.1282+1447_1282+1456del NM_001199252.1:c.1282+1448_1282+1456del NM_001199252.1:c.1282+1450_1282+1456del NM_001199252.1:c.1282+1451_1282+1456del NM_001199252.1:c.1282+1452_1282+1456del NM_001199252.1:c.1282+1453_1282+1456del NM_001199252.1:c.1282+1454_1282+1456del NM_001199252.1:c.1282+1455_1282+1456del NM_001199252.1:c.1282+1456del NM_001199252.1:c.1282+1456dup NM_001199252.1:c.1282+1455_1282+1456dup NM_001199252.1:c.1282+1454_1282+1456dup NM_001199252.1:c.1282+1453_1282+1456dup NM_001199252.1:c.1282+1452_1282+1456dup NM_001199252.1:c.1282+1451_1282+1456dup NM_001199252.1:c.1282+1450_1282+1456dup NM_001199252.1:c.1282+1448_1282+1456dup NM_001199252.1:c.1282+1447_1282+1456dup NM_001199252.1:c.1282+1446_1282+1456dup NM_001199252.1:c.1282+1445_1282+1456dup NM_001199252.1:c.1282+1444_1282+1456dup NM_001199252.1:c.1282+1443_1282+1456dup
SGO1 transcript variant Sgo1E NM_001199252.3:c.1282+1456= NM_001199252.3:c.1282+1443_1282+1456del NM_001199252.3:c.1282+1446_1282+1456del NM_001199252.3:c.1282+1447_1282+1456del NM_001199252.3:c.1282+1448_1282+1456del NM_001199252.3:c.1282+1450_1282+1456del NM_001199252.3:c.1282+1451_1282+1456del NM_001199252.3:c.1282+1452_1282+1456del NM_001199252.3:c.1282+1453_1282+1456del NM_001199252.3:c.1282+1454_1282+1456del NM_001199252.3:c.1282+1455_1282+1456del NM_001199252.3:c.1282+1456del NM_001199252.3:c.1282+1456dup NM_001199252.3:c.1282+1455_1282+1456dup NM_001199252.3:c.1282+1454_1282+1456dup NM_001199252.3:c.1282+1453_1282+1456dup NM_001199252.3:c.1282+1452_1282+1456dup NM_001199252.3:c.1282+1451_1282+1456dup NM_001199252.3:c.1282+1450_1282+1456dup NM_001199252.3:c.1282+1448_1282+1456dup NM_001199252.3:c.1282+1447_1282+1456dup NM_001199252.3:c.1282+1446_1282+1456dup NM_001199252.3:c.1282+1445_1282+1456dup NM_001199252.3:c.1282+1444_1282+1456dup NM_001199252.3:c.1282+1443_1282+1456dup
SGOL1 transcript variant B3 NM_001199253.1:c.527-1561= NM_001199253.1:c.527-1574_527-1561del NM_001199253.1:c.527-1571_527-1561del NM_001199253.1:c.527-1570_527-1561del NM_001199253.1:c.527-1569_527-1561del NM_001199253.1:c.527-1567_527-1561del NM_001199253.1:c.527-1566_527-1561del NM_001199253.1:c.527-1565_527-1561del NM_001199253.1:c.527-1564_527-1561del NM_001199253.1:c.527-1563_527-1561del NM_001199253.1:c.527-1562_527-1561del NM_001199253.1:c.527-1561del NM_001199253.1:c.527-1561dup NM_001199253.1:c.527-1562_527-1561dup NM_001199253.1:c.527-1563_527-1561dup NM_001199253.1:c.527-1564_527-1561dup NM_001199253.1:c.527-1565_527-1561dup NM_001199253.1:c.527-1566_527-1561dup NM_001199253.1:c.527-1567_527-1561dup NM_001199253.1:c.527-1569_527-1561dup NM_001199253.1:c.527-1570_527-1561dup NM_001199253.1:c.527-1571_527-1561dup NM_001199253.1:c.527-1572_527-1561dup NM_001199253.1:c.527-1573_527-1561dup NM_001199253.1:c.527-1574_527-1561dup
SGO1 transcript variant Sgo1D NM_001199253.3:c.527-1561= NM_001199253.3:c.527-1574_527-1561del NM_001199253.3:c.527-1571_527-1561del NM_001199253.3:c.527-1570_527-1561del NM_001199253.3:c.527-1569_527-1561del NM_001199253.3:c.527-1567_527-1561del NM_001199253.3:c.527-1566_527-1561del NM_001199253.3:c.527-1565_527-1561del NM_001199253.3:c.527-1564_527-1561del NM_001199253.3:c.527-1563_527-1561del NM_001199253.3:c.527-1562_527-1561del NM_001199253.3:c.527-1561del NM_001199253.3:c.527-1561dup NM_001199253.3:c.527-1562_527-1561dup NM_001199253.3:c.527-1563_527-1561dup NM_001199253.3:c.527-1564_527-1561dup NM_001199253.3:c.527-1565_527-1561dup NM_001199253.3:c.527-1566_527-1561dup NM_001199253.3:c.527-1567_527-1561dup NM_001199253.3:c.527-1569_527-1561dup NM_001199253.3:c.527-1570_527-1561dup NM_001199253.3:c.527-1571_527-1561dup NM_001199253.3:c.527-1572_527-1561dup NM_001199253.3:c.527-1573_527-1561dup NM_001199253.3:c.527-1574_527-1561dup
SGOL1 transcript variant B4 NM_001199254.1:c.527-1561= NM_001199254.1:c.527-1574_527-1561del NM_001199254.1:c.527-1571_527-1561del NM_001199254.1:c.527-1570_527-1561del NM_001199254.1:c.527-1569_527-1561del NM_001199254.1:c.527-1567_527-1561del NM_001199254.1:c.527-1566_527-1561del NM_001199254.1:c.527-1565_527-1561del NM_001199254.1:c.527-1564_527-1561del NM_001199254.1:c.527-1563_527-1561del NM_001199254.1:c.527-1562_527-1561del NM_001199254.1:c.527-1561del NM_001199254.1:c.527-1561dup NM_001199254.1:c.527-1562_527-1561dup NM_001199254.1:c.527-1563_527-1561dup NM_001199254.1:c.527-1564_527-1561dup NM_001199254.1:c.527-1565_527-1561dup NM_001199254.1:c.527-1566_527-1561dup NM_001199254.1:c.527-1567_527-1561dup NM_001199254.1:c.527-1569_527-1561dup NM_001199254.1:c.527-1570_527-1561dup NM_001199254.1:c.527-1571_527-1561dup NM_001199254.1:c.527-1572_527-1561dup NM_001199254.1:c.527-1573_527-1561dup NM_001199254.1:c.527-1574_527-1561dup
SGO1 transcript variant Sgo1G NM_001199254.3:c.527-1561= NM_001199254.3:c.527-1574_527-1561del NM_001199254.3:c.527-1571_527-1561del NM_001199254.3:c.527-1570_527-1561del NM_001199254.3:c.527-1569_527-1561del NM_001199254.3:c.527-1567_527-1561del NM_001199254.3:c.527-1566_527-1561del NM_001199254.3:c.527-1565_527-1561del NM_001199254.3:c.527-1564_527-1561del NM_001199254.3:c.527-1563_527-1561del NM_001199254.3:c.527-1562_527-1561del NM_001199254.3:c.527-1561del NM_001199254.3:c.527-1561dup NM_001199254.3:c.527-1562_527-1561dup NM_001199254.3:c.527-1563_527-1561dup NM_001199254.3:c.527-1564_527-1561dup NM_001199254.3:c.527-1565_527-1561dup NM_001199254.3:c.527-1566_527-1561dup NM_001199254.3:c.527-1567_527-1561dup NM_001199254.3:c.527-1569_527-1561dup NM_001199254.3:c.527-1570_527-1561dup NM_001199254.3:c.527-1571_527-1561dup NM_001199254.3:c.527-1572_527-1561dup NM_001199254.3:c.527-1573_527-1561dup NM_001199254.3:c.527-1574_527-1561dup
SGOL1 transcript variant C3 NM_001199255.1:c.476-1561= NM_001199255.1:c.476-1574_476-1561del NM_001199255.1:c.476-1571_476-1561del NM_001199255.1:c.476-1570_476-1561del NM_001199255.1:c.476-1569_476-1561del NM_001199255.1:c.476-1567_476-1561del NM_001199255.1:c.476-1566_476-1561del NM_001199255.1:c.476-1565_476-1561del NM_001199255.1:c.476-1564_476-1561del NM_001199255.1:c.476-1563_476-1561del NM_001199255.1:c.476-1562_476-1561del NM_001199255.1:c.476-1561del NM_001199255.1:c.476-1561dup NM_001199255.1:c.476-1562_476-1561dup NM_001199255.1:c.476-1563_476-1561dup NM_001199255.1:c.476-1564_476-1561dup NM_001199255.1:c.476-1565_476-1561dup NM_001199255.1:c.476-1566_476-1561dup NM_001199255.1:c.476-1567_476-1561dup NM_001199255.1:c.476-1569_476-1561dup NM_001199255.1:c.476-1570_476-1561dup NM_001199255.1:c.476-1571_476-1561dup NM_001199255.1:c.476-1572_476-1561dup NM_001199255.1:c.476-1573_476-1561dup NM_001199255.1:c.476-1574_476-1561dup
SGO1 transcript variant Sgo1A NM_001199255.3:c.476-1561= NM_001199255.3:c.476-1574_476-1561del NM_001199255.3:c.476-1571_476-1561del NM_001199255.3:c.476-1570_476-1561del NM_001199255.3:c.476-1569_476-1561del NM_001199255.3:c.476-1567_476-1561del NM_001199255.3:c.476-1566_476-1561del NM_001199255.3:c.476-1565_476-1561del NM_001199255.3:c.476-1564_476-1561del NM_001199255.3:c.476-1563_476-1561del NM_001199255.3:c.476-1562_476-1561del NM_001199255.3:c.476-1561del NM_001199255.3:c.476-1561dup NM_001199255.3:c.476-1562_476-1561dup NM_001199255.3:c.476-1563_476-1561dup NM_001199255.3:c.476-1564_476-1561dup NM_001199255.3:c.476-1565_476-1561dup NM_001199255.3:c.476-1566_476-1561dup NM_001199255.3:c.476-1567_476-1561dup NM_001199255.3:c.476-1569_476-1561dup NM_001199255.3:c.476-1570_476-1561dup NM_001199255.3:c.476-1571_476-1561dup NM_001199255.3:c.476-1572_476-1561dup NM_001199255.3:c.476-1573_476-1561dup NM_001199255.3:c.476-1574_476-1561dup
SGOL1 transcript variant C4 NM_001199256.1:c.476-1561= NM_001199256.1:c.476-1574_476-1561del NM_001199256.1:c.476-1571_476-1561del NM_001199256.1:c.476-1570_476-1561del NM_001199256.1:c.476-1569_476-1561del NM_001199256.1:c.476-1567_476-1561del NM_001199256.1:c.476-1566_476-1561del NM_001199256.1:c.476-1565_476-1561del NM_001199256.1:c.476-1564_476-1561del NM_001199256.1:c.476-1563_476-1561del NM_001199256.1:c.476-1562_476-1561del NM_001199256.1:c.476-1561del NM_001199256.1:c.476-1561dup NM_001199256.1:c.476-1562_476-1561dup NM_001199256.1:c.476-1563_476-1561dup NM_001199256.1:c.476-1564_476-1561dup NM_001199256.1:c.476-1565_476-1561dup NM_001199256.1:c.476-1566_476-1561dup NM_001199256.1:c.476-1567_476-1561dup NM_001199256.1:c.476-1569_476-1561dup NM_001199256.1:c.476-1570_476-1561dup NM_001199256.1:c.476-1571_476-1561dup NM_001199256.1:c.476-1572_476-1561dup NM_001199256.1:c.476-1573_476-1561dup NM_001199256.1:c.476-1574_476-1561dup
SGO1 transcript variant Sgo1K NM_001199256.3:c.476-1561= NM_001199256.3:c.476-1574_476-1561del NM_001199256.3:c.476-1571_476-1561del NM_001199256.3:c.476-1570_476-1561del NM_001199256.3:c.476-1569_476-1561del NM_001199256.3:c.476-1567_476-1561del NM_001199256.3:c.476-1566_476-1561del NM_001199256.3:c.476-1565_476-1561del NM_001199256.3:c.476-1564_476-1561del NM_001199256.3:c.476-1563_476-1561del NM_001199256.3:c.476-1562_476-1561del NM_001199256.3:c.476-1561del NM_001199256.3:c.476-1561dup NM_001199256.3:c.476-1562_476-1561dup NM_001199256.3:c.476-1563_476-1561dup NM_001199256.3:c.476-1564_476-1561dup NM_001199256.3:c.476-1565_476-1561dup NM_001199256.3:c.476-1566_476-1561dup NM_001199256.3:c.476-1567_476-1561dup NM_001199256.3:c.476-1569_476-1561dup NM_001199256.3:c.476-1570_476-1561dup NM_001199256.3:c.476-1571_476-1561dup NM_001199256.3:c.476-1572_476-1561dup NM_001199256.3:c.476-1573_476-1561dup NM_001199256.3:c.476-1574_476-1561dup
SGOL1 transcript variant D1 NM_001199257.1:c.526+2212= NM_001199257.1:c.526+2199_526+2212del NM_001199257.1:c.526+2202_526+2212del NM_001199257.1:c.526+2203_526+2212del NM_001199257.1:c.526+2204_526+2212del NM_001199257.1:c.526+2206_526+2212del NM_001199257.1:c.526+2207_526+2212del NM_001199257.1:c.526+2208_526+2212del NM_001199257.1:c.526+2209_526+2212del NM_001199257.1:c.526+2210_526+2212del NM_001199257.1:c.526+2211_526+2212del NM_001199257.1:c.526+2212del NM_001199257.1:c.526+2212dup NM_001199257.1:c.526+2211_526+2212dup NM_001199257.1:c.526+2210_526+2212dup NM_001199257.1:c.526+2209_526+2212dup NM_001199257.1:c.526+2208_526+2212dup NM_001199257.1:c.526+2207_526+2212dup NM_001199257.1:c.526+2206_526+2212dup NM_001199257.1:c.526+2204_526+2212dup NM_001199257.1:c.526+2203_526+2212dup NM_001199257.1:c.526+2202_526+2212dup NM_001199257.1:c.526+2201_526+2212dup NM_001199257.1:c.526+2200_526+2212dup NM_001199257.1:c.526+2199_526+2212dup
SGO1 transcript variant Sgo1J NM_001199257.3:c.526+2212= NM_001199257.3:c.526+2199_526+2212del NM_001199257.3:c.526+2202_526+2212del NM_001199257.3:c.526+2203_526+2212del NM_001199257.3:c.526+2204_526+2212del NM_001199257.3:c.526+2206_526+2212del NM_001199257.3:c.526+2207_526+2212del NM_001199257.3:c.526+2208_526+2212del NM_001199257.3:c.526+2209_526+2212del NM_001199257.3:c.526+2210_526+2212del NM_001199257.3:c.526+2211_526+2212del NM_001199257.3:c.526+2212del NM_001199257.3:c.526+2212dup NM_001199257.3:c.526+2211_526+2212dup NM_001199257.3:c.526+2210_526+2212dup NM_001199257.3:c.526+2209_526+2212dup NM_001199257.3:c.526+2208_526+2212dup NM_001199257.3:c.526+2207_526+2212dup NM_001199257.3:c.526+2206_526+2212dup NM_001199257.3:c.526+2204_526+2212dup NM_001199257.3:c.526+2203_526+2212dup NM_001199257.3:c.526+2202_526+2212dup NM_001199257.3:c.526+2201_526+2212dup NM_001199257.3:c.526+2200_526+2212dup NM_001199257.3:c.526+2199_526+2212dup
SGOL1 transcript variant C2 NM_138484.3:c.476-1561= NM_138484.3:c.476-1574_476-1561del NM_138484.3:c.476-1571_476-1561del NM_138484.3:c.476-1570_476-1561del NM_138484.3:c.476-1569_476-1561del NM_138484.3:c.476-1567_476-1561del NM_138484.3:c.476-1566_476-1561del NM_138484.3:c.476-1565_476-1561del NM_138484.3:c.476-1564_476-1561del NM_138484.3:c.476-1563_476-1561del NM_138484.3:c.476-1562_476-1561del NM_138484.3:c.476-1561del NM_138484.3:c.476-1561dup NM_138484.3:c.476-1562_476-1561dup NM_138484.3:c.476-1563_476-1561dup NM_138484.3:c.476-1564_476-1561dup NM_138484.3:c.476-1565_476-1561dup NM_138484.3:c.476-1566_476-1561dup NM_138484.3:c.476-1567_476-1561dup NM_138484.3:c.476-1569_476-1561dup NM_138484.3:c.476-1570_476-1561dup NM_138484.3:c.476-1571_476-1561dup NM_138484.3:c.476-1572_476-1561dup NM_138484.3:c.476-1573_476-1561dup NM_138484.3:c.476-1574_476-1561dup
SGO1 transcript variant Sgo1L NM_138484.5:c.476-1561= NM_138484.5:c.476-1574_476-1561del NM_138484.5:c.476-1571_476-1561del NM_138484.5:c.476-1570_476-1561del NM_138484.5:c.476-1569_476-1561del NM_138484.5:c.476-1567_476-1561del NM_138484.5:c.476-1566_476-1561del NM_138484.5:c.476-1565_476-1561del NM_138484.5:c.476-1564_476-1561del NM_138484.5:c.476-1563_476-1561del NM_138484.5:c.476-1562_476-1561del NM_138484.5:c.476-1561del NM_138484.5:c.476-1561dup NM_138484.5:c.476-1562_476-1561dup NM_138484.5:c.476-1563_476-1561dup NM_138484.5:c.476-1564_476-1561dup NM_138484.5:c.476-1565_476-1561dup NM_138484.5:c.476-1566_476-1561dup NM_138484.5:c.476-1567_476-1561dup NM_138484.5:c.476-1569_476-1561dup NM_138484.5:c.476-1570_476-1561dup NM_138484.5:c.476-1571_476-1561dup NM_138484.5:c.476-1572_476-1561dup NM_138484.5:c.476-1573_476-1561dup NM_138484.5:c.476-1574_476-1561dup
SGO1 transcript variant X1 XM_011533373.3:c.1282+1456= XM_011533373.3:c.1282+1443_1282+1456del XM_011533373.3:c.1282+1446_1282+1456del XM_011533373.3:c.1282+1447_1282+1456del XM_011533373.3:c.1282+1448_1282+1456del XM_011533373.3:c.1282+1450_1282+1456del XM_011533373.3:c.1282+1451_1282+1456del XM_011533373.3:c.1282+1452_1282+1456del XM_011533373.3:c.1282+1453_1282+1456del XM_011533373.3:c.1282+1454_1282+1456del XM_011533373.3:c.1282+1455_1282+1456del XM_011533373.3:c.1282+1456del XM_011533373.3:c.1282+1456dup XM_011533373.3:c.1282+1455_1282+1456dup XM_011533373.3:c.1282+1454_1282+1456dup XM_011533373.3:c.1282+1453_1282+1456dup XM_011533373.3:c.1282+1452_1282+1456dup XM_011533373.3:c.1282+1451_1282+1456dup XM_011533373.3:c.1282+1450_1282+1456dup XM_011533373.3:c.1282+1448_1282+1456dup XM_011533373.3:c.1282+1447_1282+1456dup XM_011533373.3:c.1282+1446_1282+1456dup XM_011533373.3:c.1282+1445_1282+1456dup XM_011533373.3:c.1282+1444_1282+1456dup XM_011533373.3:c.1282+1443_1282+1456dup
SGO1 transcript variant X3 XM_011533375.3:c.1282+1456= XM_011533375.3:c.1282+1443_1282+1456del XM_011533375.3:c.1282+1446_1282+1456del XM_011533375.3:c.1282+1447_1282+1456del XM_011533375.3:c.1282+1448_1282+1456del XM_011533375.3:c.1282+1450_1282+1456del XM_011533375.3:c.1282+1451_1282+1456del XM_011533375.3:c.1282+1452_1282+1456del XM_011533375.3:c.1282+1453_1282+1456del XM_011533375.3:c.1282+1454_1282+1456del XM_011533375.3:c.1282+1455_1282+1456del XM_011533375.3:c.1282+1456del XM_011533375.3:c.1282+1456dup XM_011533375.3:c.1282+1455_1282+1456dup XM_011533375.3:c.1282+1454_1282+1456dup XM_011533375.3:c.1282+1453_1282+1456dup XM_011533375.3:c.1282+1452_1282+1456dup XM_011533375.3:c.1282+1451_1282+1456dup XM_011533375.3:c.1282+1450_1282+1456dup XM_011533375.3:c.1282+1448_1282+1456dup XM_011533375.3:c.1282+1447_1282+1456dup XM_011533375.3:c.1282+1446_1282+1456dup XM_011533375.3:c.1282+1445_1282+1456dup XM_011533375.3:c.1282+1444_1282+1456dup XM_011533375.3:c.1282+1443_1282+1456dup
SGO1 transcript variant X2 XM_011533376.3:c.1282+1456= XM_011533376.3:c.1282+1443_1282+1456del XM_011533376.3:c.1282+1446_1282+1456del XM_011533376.3:c.1282+1447_1282+1456del XM_011533376.3:c.1282+1448_1282+1456del XM_011533376.3:c.1282+1450_1282+1456del XM_011533376.3:c.1282+1451_1282+1456del XM_011533376.3:c.1282+1452_1282+1456del XM_011533376.3:c.1282+1453_1282+1456del XM_011533376.3:c.1282+1454_1282+1456del XM_011533376.3:c.1282+1455_1282+1456del XM_011533376.3:c.1282+1456del XM_011533376.3:c.1282+1456dup XM_011533376.3:c.1282+1455_1282+1456dup XM_011533376.3:c.1282+1454_1282+1456dup XM_011533376.3:c.1282+1453_1282+1456dup XM_011533376.3:c.1282+1452_1282+1456dup XM_011533376.3:c.1282+1451_1282+1456dup XM_011533376.3:c.1282+1450_1282+1456dup XM_011533376.3:c.1282+1448_1282+1456dup XM_011533376.3:c.1282+1447_1282+1456dup XM_011533376.3:c.1282+1446_1282+1456dup XM_011533376.3:c.1282+1445_1282+1456dup XM_011533376.3:c.1282+1444_1282+1456dup XM_011533376.3:c.1282+1443_1282+1456dup
SGO1 transcript variant X4 XM_011533377.3:c.1282+1456= XM_011533377.3:c.1282+1443_1282+1456del XM_011533377.3:c.1282+1446_1282+1456del XM_011533377.3:c.1282+1447_1282+1456del XM_011533377.3:c.1282+1448_1282+1456del XM_011533377.3:c.1282+1450_1282+1456del XM_011533377.3:c.1282+1451_1282+1456del XM_011533377.3:c.1282+1452_1282+1456del XM_011533377.3:c.1282+1453_1282+1456del XM_011533377.3:c.1282+1454_1282+1456del XM_011533377.3:c.1282+1455_1282+1456del XM_011533377.3:c.1282+1456del XM_011533377.3:c.1282+1456dup XM_011533377.3:c.1282+1455_1282+1456dup XM_011533377.3:c.1282+1454_1282+1456dup XM_011533377.3:c.1282+1453_1282+1456dup XM_011533377.3:c.1282+1452_1282+1456dup XM_011533377.3:c.1282+1451_1282+1456dup XM_011533377.3:c.1282+1450_1282+1456dup XM_011533377.3:c.1282+1448_1282+1456dup XM_011533377.3:c.1282+1447_1282+1456dup XM_011533377.3:c.1282+1446_1282+1456dup XM_011533377.3:c.1282+1445_1282+1456dup XM_011533377.3:c.1282+1444_1282+1456dup XM_011533377.3:c.1282+1443_1282+1456dup
SGO1 transcript variant X5 XM_047447486.1:c.527-1561= XM_047447486.1:c.527-1574_527-1561del XM_047447486.1:c.527-1571_527-1561del XM_047447486.1:c.527-1570_527-1561del XM_047447486.1:c.527-1569_527-1561del XM_047447486.1:c.527-1567_527-1561del XM_047447486.1:c.527-1566_527-1561del XM_047447486.1:c.527-1565_527-1561del XM_047447486.1:c.527-1564_527-1561del XM_047447486.1:c.527-1563_527-1561del XM_047447486.1:c.527-1562_527-1561del XM_047447486.1:c.527-1561del XM_047447486.1:c.527-1561dup XM_047447486.1:c.527-1562_527-1561dup XM_047447486.1:c.527-1563_527-1561dup XM_047447486.1:c.527-1564_527-1561dup XM_047447486.1:c.527-1565_527-1561dup XM_047447486.1:c.527-1566_527-1561dup XM_047447486.1:c.527-1567_527-1561dup XM_047447486.1:c.527-1569_527-1561dup XM_047447486.1:c.527-1570_527-1561dup XM_047447486.1:c.527-1571_527-1561dup XM_047447486.1:c.527-1572_527-1561dup XM_047447486.1:c.527-1573_527-1561dup XM_047447486.1:c.527-1574_527-1561dup
SGO1 transcript variant X6 XM_047447487.1:c.476-1561= XM_047447487.1:c.476-1574_476-1561del XM_047447487.1:c.476-1571_476-1561del XM_047447487.1:c.476-1570_476-1561del XM_047447487.1:c.476-1569_476-1561del XM_047447487.1:c.476-1567_476-1561del XM_047447487.1:c.476-1566_476-1561del XM_047447487.1:c.476-1565_476-1561del XM_047447487.1:c.476-1564_476-1561del XM_047447487.1:c.476-1563_476-1561del XM_047447487.1:c.476-1562_476-1561del XM_047447487.1:c.476-1561del XM_047447487.1:c.476-1561dup XM_047447487.1:c.476-1562_476-1561dup XM_047447487.1:c.476-1563_476-1561dup XM_047447487.1:c.476-1564_476-1561dup XM_047447487.1:c.476-1565_476-1561dup XM_047447487.1:c.476-1566_476-1561dup XM_047447487.1:c.476-1567_476-1561dup XM_047447487.1:c.476-1569_476-1561dup XM_047447487.1:c.476-1570_476-1561dup XM_047447487.1:c.476-1571_476-1561dup XM_047447487.1:c.476-1572_476-1561dup XM_047447487.1:c.476-1573_476-1561dup XM_047447487.1:c.476-1574_476-1561dup
SGO1 transcript variant X7 XM_047447488.1:c.527-1561= XM_047447488.1:c.527-1574_527-1561del XM_047447488.1:c.527-1571_527-1561del XM_047447488.1:c.527-1570_527-1561del XM_047447488.1:c.527-1569_527-1561del XM_047447488.1:c.527-1567_527-1561del XM_047447488.1:c.527-1566_527-1561del XM_047447488.1:c.527-1565_527-1561del XM_047447488.1:c.527-1564_527-1561del XM_047447488.1:c.527-1563_527-1561del XM_047447488.1:c.527-1562_527-1561del XM_047447488.1:c.527-1561del XM_047447488.1:c.527-1561dup XM_047447488.1:c.527-1562_527-1561dup XM_047447488.1:c.527-1563_527-1561dup XM_047447488.1:c.527-1564_527-1561dup XM_047447488.1:c.527-1565_527-1561dup XM_047447488.1:c.527-1566_527-1561dup XM_047447488.1:c.527-1567_527-1561dup XM_047447488.1:c.527-1569_527-1561dup XM_047447488.1:c.527-1570_527-1561dup XM_047447488.1:c.527-1571_527-1561dup XM_047447488.1:c.527-1572_527-1561dup XM_047447488.1:c.527-1573_527-1561dup XM_047447488.1:c.527-1574_527-1561dup
SGO1 transcript variant X8 XM_047447489.1:c.476-1561= XM_047447489.1:c.476-1574_476-1561del XM_047447489.1:c.476-1571_476-1561del XM_047447489.1:c.476-1570_476-1561del XM_047447489.1:c.476-1569_476-1561del XM_047447489.1:c.476-1567_476-1561del XM_047447489.1:c.476-1566_476-1561del XM_047447489.1:c.476-1565_476-1561del XM_047447489.1:c.476-1564_476-1561del XM_047447489.1:c.476-1563_476-1561del XM_047447489.1:c.476-1562_476-1561del XM_047447489.1:c.476-1561del XM_047447489.1:c.476-1561dup XM_047447489.1:c.476-1562_476-1561dup XM_047447489.1:c.476-1563_476-1561dup XM_047447489.1:c.476-1564_476-1561dup XM_047447489.1:c.476-1565_476-1561dup XM_047447489.1:c.476-1566_476-1561dup XM_047447489.1:c.476-1567_476-1561dup XM_047447489.1:c.476-1569_476-1561dup XM_047447489.1:c.476-1570_476-1561dup XM_047447489.1:c.476-1571_476-1561dup XM_047447489.1:c.476-1572_476-1561dup XM_047447489.1:c.476-1573_476-1561dup XM_047447489.1:c.476-1574_476-1561dup
SGO1 transcript variant X9 XM_047447490.1:c.476-1561= XM_047447490.1:c.476-1574_476-1561del XM_047447490.1:c.476-1571_476-1561del XM_047447490.1:c.476-1570_476-1561del XM_047447490.1:c.476-1569_476-1561del XM_047447490.1:c.476-1567_476-1561del XM_047447490.1:c.476-1566_476-1561del XM_047447490.1:c.476-1565_476-1561del XM_047447490.1:c.476-1564_476-1561del XM_047447490.1:c.476-1563_476-1561del XM_047447490.1:c.476-1562_476-1561del XM_047447490.1:c.476-1561del XM_047447490.1:c.476-1561dup XM_047447490.1:c.476-1562_476-1561dup XM_047447490.1:c.476-1563_476-1561dup XM_047447490.1:c.476-1564_476-1561dup XM_047447490.1:c.476-1565_476-1561dup XM_047447490.1:c.476-1566_476-1561dup XM_047447490.1:c.476-1567_476-1561dup XM_047447490.1:c.476-1569_476-1561dup XM_047447490.1:c.476-1570_476-1561dup XM_047447490.1:c.476-1571_476-1561dup XM_047447490.1:c.476-1572_476-1561dup XM_047447490.1:c.476-1573_476-1561dup XM_047447490.1:c.476-1574_476-1561dup
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

52 SubSNP, 34 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss80049313 Dec 15, 2007 (129)
2 SSMP ss663395854 Apr 01, 2015 (144)
3 SSIP ss947082046 Aug 21, 2014 (142)
4 EVA_GENOME_DK ss1575894944 Apr 01, 2015 (144)
5 SWEGEN ss2991932226 Nov 08, 2017 (151)
6 SWEGEN ss2991932227 Nov 08, 2017 (151)
7 SWEGEN ss2991932228 Nov 08, 2017 (151)
8 SWEGEN ss2991932229 Nov 08, 2017 (151)
9 EVA ss3827692117 Apr 25, 2020 (154)
10 GNOMAD ss4066941421 Apr 26, 2021 (155)
11 GNOMAD ss4066941422 Apr 26, 2021 (155)
12 GNOMAD ss4066941423 Apr 26, 2021 (155)
13 GNOMAD ss4066941424 Apr 26, 2021 (155)
14 GNOMAD ss4066941425 Apr 26, 2021 (155)
15 GNOMAD ss4066941426 Apr 26, 2021 (155)
16 GNOMAD ss4066941427 Apr 26, 2021 (155)
17 GNOMAD ss4066941428 Apr 26, 2021 (155)
18 GNOMAD ss4066941429 Apr 26, 2021 (155)
19 GNOMAD ss4066941430 Apr 26, 2021 (155)
20 GNOMAD ss4066941431 Apr 26, 2021 (155)
21 GNOMAD ss4066941432 Apr 26, 2021 (155)
22 GNOMAD ss4066941433 Apr 26, 2021 (155)
23 GNOMAD ss4066941435 Apr 26, 2021 (155)
24 GNOMAD ss4066941436 Apr 26, 2021 (155)
25 GNOMAD ss4066941437 Apr 26, 2021 (155)
26 GNOMAD ss4066941438 Apr 26, 2021 (155)
27 GNOMAD ss4066941439 Apr 26, 2021 (155)
28 GNOMAD ss4066941440 Apr 26, 2021 (155)
29 GNOMAD ss4066941441 Apr 26, 2021 (155)
30 GNOMAD ss4066941442 Apr 26, 2021 (155)
31 GNOMAD ss4066941443 Apr 26, 2021 (155)
32 GNOMAD ss4066941444 Apr 26, 2021 (155)
33 TOMMO_GENOMICS ss5158086806 Apr 26, 2021 (155)
34 TOMMO_GENOMICS ss5158086807 Apr 26, 2021 (155)
35 TOMMO_GENOMICS ss5158086808 Apr 26, 2021 (155)
36 TOMMO_GENOMICS ss5158086809 Apr 26, 2021 (155)
37 TOMMO_GENOMICS ss5158086810 Apr 26, 2021 (155)
38 1000G_HIGH_COVERAGE ss5253270095 Oct 13, 2022 (156)
39 1000G_HIGH_COVERAGE ss5253270096 Oct 13, 2022 (156)
40 1000G_HIGH_COVERAGE ss5253270097 Oct 13, 2022 (156)
41 1000G_HIGH_COVERAGE ss5253270098 Oct 13, 2022 (156)
42 1000G_HIGH_COVERAGE ss5253270099 Oct 13, 2022 (156)
43 1000G_HIGH_COVERAGE ss5253270100 Oct 13, 2022 (156)
44 HUGCELL_USP ss5452745405 Oct 13, 2022 (156)
45 HUGCELL_USP ss5452745406 Oct 13, 2022 (156)
46 HUGCELL_USP ss5452745407 Oct 13, 2022 (156)
47 HUGCELL_USP ss5452745408 Oct 13, 2022 (156)
48 HUGCELL_USP ss5452745409 Oct 13, 2022 (156)
49 TOMMO_GENOMICS ss5689437043 Oct 13, 2022 (156)
50 TOMMO_GENOMICS ss5689437044 Oct 13, 2022 (156)
51 TOMMO_GENOMICS ss5689437045 Oct 13, 2022 (156)
52 TOMMO_GENOMICS ss5689437047 Oct 13, 2022 (156)
53 The Danish reference pan genome NC_000003.11 - 20214285 Apr 25, 2020 (154)
54 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 100874678 (NC_000003.12:20172792::A 45304/91218)
Row 100874679 (NC_000003.12:20172792::AA 6920/91182)
Row 100874680 (NC_000003.12:20172792::AAA 7271/91120)...

- Apr 26, 2021 (155)
55 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 100874678 (NC_000003.12:20172792::A 45304/91218)
Row 100874679 (NC_000003.12:20172792::AA 6920/91182)
Row 100874680 (NC_000003.12:20172792::AAA 7271/91120)...

- Apr 26, 2021 (155)
56 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 100874678 (NC_000003.12:20172792::A 45304/91218)
Row 100874679 (NC_000003.12:20172792::AA 6920/91182)
Row 100874680 (NC_000003.12:20172792::AAA 7271/91120)...

- Apr 26, 2021 (155)
57 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 100874678 (NC_000003.12:20172792::A 45304/91218)
Row 100874679 (NC_000003.12:20172792::AA 6920/91182)
Row 100874680 (NC_000003.12:20172792::AAA 7271/91120)...

- Apr 26, 2021 (155)
58 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 100874678 (NC_000003.12:20172792::A 45304/91218)
Row 100874679 (NC_000003.12:20172792::AA 6920/91182)
Row 100874680 (NC_000003.12:20172792::AAA 7271/91120)...

- Apr 26, 2021 (155)
59 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 100874678 (NC_000003.12:20172792::A 45304/91218)
Row 100874679 (NC_000003.12:20172792::AA 6920/91182)
Row 100874680 (NC_000003.12:20172792::AAA 7271/91120)...

- Apr 26, 2021 (155)
60 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 100874678 (NC_000003.12:20172792::A 45304/91218)
Row 100874679 (NC_000003.12:20172792::AA 6920/91182)
Row 100874680 (NC_000003.12:20172792::AAA 7271/91120)...

- Apr 26, 2021 (155)
61 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 100874678 (NC_000003.12:20172792::A 45304/91218)
Row 100874679 (NC_000003.12:20172792::AA 6920/91182)
Row 100874680 (NC_000003.12:20172792::AAA 7271/91120)...

- Apr 26, 2021 (155)
62 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 100874678 (NC_000003.12:20172792::A 45304/91218)
Row 100874679 (NC_000003.12:20172792::AA 6920/91182)
Row 100874680 (NC_000003.12:20172792::AAA 7271/91120)...

- Apr 26, 2021 (155)
63 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 100874678 (NC_000003.12:20172792::A 45304/91218)
Row 100874679 (NC_000003.12:20172792::AA 6920/91182)
Row 100874680 (NC_000003.12:20172792::AAA 7271/91120)...

- Apr 26, 2021 (155)
64 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 100874678 (NC_000003.12:20172792::A 45304/91218)
Row 100874679 (NC_000003.12:20172792::AA 6920/91182)
Row 100874680 (NC_000003.12:20172792::AAA 7271/91120)...

- Apr 26, 2021 (155)
65 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 100874678 (NC_000003.12:20172792::A 45304/91218)
Row 100874679 (NC_000003.12:20172792::AA 6920/91182)
Row 100874680 (NC_000003.12:20172792::AAA 7271/91120)...

- Apr 26, 2021 (155)
66 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 100874678 (NC_000003.12:20172792::A 45304/91218)
Row 100874679 (NC_000003.12:20172792::AA 6920/91182)
Row 100874680 (NC_000003.12:20172792::AAA 7271/91120)...

- Apr 26, 2021 (155)
67 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 100874678 (NC_000003.12:20172792::A 45304/91218)
Row 100874679 (NC_000003.12:20172792::AA 6920/91182)
Row 100874680 (NC_000003.12:20172792::AAA 7271/91120)...

- Apr 26, 2021 (155)
68 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 100874678 (NC_000003.12:20172792::A 45304/91218)
Row 100874679 (NC_000003.12:20172792::AA 6920/91182)
Row 100874680 (NC_000003.12:20172792::AAA 7271/91120)...

- Apr 26, 2021 (155)
69 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 100874678 (NC_000003.12:20172792::A 45304/91218)
Row 100874679 (NC_000003.12:20172792::AA 6920/91182)
Row 100874680 (NC_000003.12:20172792::AAA 7271/91120)...

- Apr 26, 2021 (155)
70 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 100874678 (NC_000003.12:20172792::A 45304/91218)
Row 100874679 (NC_000003.12:20172792::AA 6920/91182)
Row 100874680 (NC_000003.12:20172792::AAA 7271/91120)...

- Apr 26, 2021 (155)
71 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 100874678 (NC_000003.12:20172792::A 45304/91218)
Row 100874679 (NC_000003.12:20172792::AA 6920/91182)
Row 100874680 (NC_000003.12:20172792::AAA 7271/91120)...

- Apr 26, 2021 (155)
72 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 100874678 (NC_000003.12:20172792::A 45304/91218)
Row 100874679 (NC_000003.12:20172792::AA 6920/91182)
Row 100874680 (NC_000003.12:20172792::AAA 7271/91120)...

- Apr 26, 2021 (155)
73 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 100874678 (NC_000003.12:20172792::A 45304/91218)
Row 100874679 (NC_000003.12:20172792::AA 6920/91182)
Row 100874680 (NC_000003.12:20172792::AAA 7271/91120)...

- Apr 26, 2021 (155)
74 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 100874678 (NC_000003.12:20172792::A 45304/91218)
Row 100874679 (NC_000003.12:20172792::AA 6920/91182)
Row 100874680 (NC_000003.12:20172792::AAA 7271/91120)...

- Apr 26, 2021 (155)
75 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 100874678 (NC_000003.12:20172792::A 45304/91218)
Row 100874679 (NC_000003.12:20172792::AA 6920/91182)
Row 100874680 (NC_000003.12:20172792::AAA 7271/91120)...

- Apr 26, 2021 (155)
76 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 100874678 (NC_000003.12:20172792::A 45304/91218)
Row 100874679 (NC_000003.12:20172792::AA 6920/91182)
Row 100874680 (NC_000003.12:20172792::AAA 7271/91120)...

- Apr 26, 2021 (155)
77 8.3KJPN

Submission ignored due to conflicting rows:
Row 16056113 (NC_000003.11:20214284::A 11018/16520)
Row 16056114 (NC_000003.11:20214284::AA 2861/16520)
Row 16056115 (NC_000003.11:20214284::AAA 825/16520)...

- Apr 26, 2021 (155)
78 8.3KJPN

Submission ignored due to conflicting rows:
Row 16056113 (NC_000003.11:20214284::A 11018/16520)
Row 16056114 (NC_000003.11:20214284::AA 2861/16520)
Row 16056115 (NC_000003.11:20214284::AAA 825/16520)...

- Apr 26, 2021 (155)
79 8.3KJPN

Submission ignored due to conflicting rows:
Row 16056113 (NC_000003.11:20214284::A 11018/16520)
Row 16056114 (NC_000003.11:20214284::AA 2861/16520)
Row 16056115 (NC_000003.11:20214284::AAA 825/16520)...

- Apr 26, 2021 (155)
80 8.3KJPN

Submission ignored due to conflicting rows:
Row 16056113 (NC_000003.11:20214284::A 11018/16520)
Row 16056114 (NC_000003.11:20214284::AA 2861/16520)
Row 16056115 (NC_000003.11:20214284::AAA 825/16520)...

- Apr 26, 2021 (155)
81 8.3KJPN

Submission ignored due to conflicting rows:
Row 16056113 (NC_000003.11:20214284::A 11018/16520)
Row 16056114 (NC_000003.11:20214284::AA 2861/16520)
Row 16056115 (NC_000003.11:20214284::AAA 825/16520)...

- Apr 26, 2021 (155)
82 14KJPN

Submission ignored due to conflicting rows:
Row 23274147 (NC_000003.12:20172792::A 19488/28108)
Row 23274148 (NC_000003.12:20172792::AA 4996/28108)
Row 23274149 (NC_000003.12:20172792::AAA 1440/28108)...

- Oct 13, 2022 (156)
83 14KJPN

Submission ignored due to conflicting rows:
Row 23274147 (NC_000003.12:20172792::A 19488/28108)
Row 23274148 (NC_000003.12:20172792::AA 4996/28108)
Row 23274149 (NC_000003.12:20172792::AAA 1440/28108)...

- Oct 13, 2022 (156)
84 14KJPN

Submission ignored due to conflicting rows:
Row 23274147 (NC_000003.12:20172792::A 19488/28108)
Row 23274148 (NC_000003.12:20172792::AA 4996/28108)
Row 23274149 (NC_000003.12:20172792::AAA 1440/28108)...

- Oct 13, 2022 (156)
85 14KJPN

Submission ignored due to conflicting rows:
Row 23274147 (NC_000003.12:20172792::A 19488/28108)
Row 23274148 (NC_000003.12:20172792::AA 4996/28108)
Row 23274149 (NC_000003.12:20172792::AAA 1440/28108)...

- Oct 13, 2022 (156)
86 ALFA NC_000003.12 - 20172793 Apr 26, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4066941444 NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAA:

NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
12222003012 NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
ss4066941443 NC_000003.12:20172792:AAAAAAAAAAA: NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
12222003012 NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss4066941442 NC_000003.12:20172792:AAAAAAAAAA: NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
12222003012 NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss4066941441 NC_000003.12:20172792:AAAAAAA: NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
12222003012 NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss4066941440, ss5253270095 NC_000003.12:20172792:AAAAAA: NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
12222003012 NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss4066941439 NC_000003.12:20172792:AAAAA: NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
12222003012 NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss4066941438 NC_000003.12:20172792:AAAA: NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss4066941437 NC_000003.12:20172792:AAA: NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss4066941436, ss5452745409 NC_000003.12:20172792:AA: NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
12222003012 NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss4066941435, ss5253270100, ss5452745407 NC_000003.12:20172792:A: NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
12222003012 NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
811532, ss663395854, ss1575894944, ss2991932226, ss3827692117, ss5158086806 NC_000003.11:20214284::A NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss947082046 NC_000003.11:20214285::A NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4066941421, ss5253270096, ss5452745405, ss5689437043 NC_000003.12:20172792::A NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
12222003012 NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss2991932227, ss5158086807 NC_000003.11:20214284::AA NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4066941422, ss5253270097, ss5452745406, ss5689437044 NC_000003.12:20172792::AA NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
12222003012 NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss2991932228, ss5158086808 NC_000003.11:20214284::AAA NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4066941423, ss5253270098, ss5452745408, ss5689437045 NC_000003.12:20172792::AAA NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
12222003012 NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss80049313 NT_022517.18:20154308::AAA NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5158086809 NC_000003.11:20214284::AAAA NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4066941424, ss5253270099, ss5689437047 NC_000003.12:20172792::AAAA NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
12222003012 NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4066941425 NC_000003.12:20172792::AAAAA NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4066941426 NC_000003.12:20172792::AAAAAA NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
12222003012 NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4066941427 NC_000003.12:20172792::AAAAAAA NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
12222003012 NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4066941428 NC_000003.12:20172792::AAAAAAAAA NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4066941429 NC_000003.12:20172792::AAAAAAAAAA NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss2991932229, ss5158086810 NC_000003.11:20214284::AAAAAAAAAAA NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4066941430 NC_000003.12:20172792::AAAAAAAAAAA NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
12222003012 NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4066941431 NC_000003.12:20172792::AAAAAAAAAAAA NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4066941432 NC_000003.12:20172792::AAAAAAAAAAA…

NC_000003.12:20172792::AAAAAAAAAAAAA

NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4066941433 NC_000003.12:20172792::AAAAAAAAAAA…

NC_000003.12:20172792::AAAAAAAAAAAAAA

NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss2416656653 NC_000003.11:20214284:AAAAAAAAAAAA…

NC_000003.11:20214284:AAAAAAAAAAAAAA:

NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

ss3384330003 NC_000003.12:20172792:AAAAAAAAA: NC_000003.12:20172792:AAAAAAAAAAAA…

NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs60411282

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post820+afb47a3d