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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.

rs10602884

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:69344187-69344209 (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)15 / del(A)13 / del(A)12 / d…

del(A)15 / del(A)13 / del(A)12 / del(A)11 / del(A)10 / del(A)9 / del(A)8 / 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)8 / dup(A)11 / dup(A)12 / dup(A)13 / dup(A)14 / dup(A)15 / dup(A)16 / dup(A)17 / dup(A)18 / dup(A)19 / dup(A)20 / dup(A)23 / ins(A)24 / ins(A)25 / ins(A)26 / ins(A)34 / ins(A)41 / insC(A)27

Variation Type
Indel Insertion and Deletion
Frequency
delAA=0.1372 (874/6372, ALFA)
(A)23=0.3496 (1751/5008, 1000G)
delAA=0.47 (19/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
GFPT1 : Intron 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 6372 AAAAAAAAAAAAAAAAAAAAAAA=0.7814 AAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.1372, AAAAAAAAAAAAAAAAAAAAAA=0.0468, AAAAAAAAAAAAAAAAAAAAAAAA=0.0279, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0049, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0019, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 0.767883 0.04854 0.183577 32
European Sub 6036 AAAAAAAAAAAAAAAAAAAAAAA=0.7699 AAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.1445, AAAAAAAAAAAAAAAAAAAAAA=0.0490, AAAAAAAAAAAAAAAAAAAAAAAA=0.0295, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0051, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0020, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 0.753302 0.051282 0.195416 32
African Sub 70 AAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African Others Sub 0 AAAAAAAAAAAAAAAAAAAAAAA=0 AAAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
African American Sub 70 AAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Asian Sub 30 AAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 18 AAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 12 AAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 26 AAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 120 AAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 20 AAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 70 AAAAAAAAAAAAAAAAAAAAAAA=0.94 AAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.03, AAAAAAAAAAAAAAAAAAAAAA=0.03, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00 0.969697 0.030303 0.0 18


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 6372 (A)23=0.7814 del(A)15=0.0000, del(A)13=0.0000, del(A)12=0.0000, del(A)11=0.0000, del(A)10=0.0000, del(A)9=0.0000, del(A)8=0.0000, del(A)7=0.0000, del(A)6=0.0000, del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.1372, delA=0.0468, dupA=0.0279, dupAA=0.0000, dup(A)16=0.0049, dup(A)18=0.0019
Allele Frequency Aggregator European Sub 6036 (A)23=0.7699 del(A)15=0.0000, del(A)13=0.0000, del(A)12=0.0000, del(A)11=0.0000, del(A)10=0.0000, del(A)9=0.0000, del(A)8=0.0000, del(A)7=0.0000, del(A)6=0.0000, del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.1445, delA=0.0490, dupA=0.0295, dupAA=0.0000, dup(A)16=0.0051, dup(A)18=0.0020
Allele Frequency Aggregator Latin American 2 Sub 120 (A)23=1.000 del(A)15=0.000, del(A)13=0.000, del(A)12=0.000, del(A)11=0.000, del(A)10=0.000, del(A)9=0.000, del(A)8=0.000, del(A)7=0.000, del(A)6=0.000, del(A)5=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dup(A)16=0.000, dup(A)18=0.000
Allele Frequency Aggregator Other Sub 70 (A)23=0.94 del(A)15=0.00, del(A)13=0.00, del(A)12=0.00, del(A)11=0.00, del(A)10=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.03, delA=0.03, dupA=0.00, dupAA=0.00, dup(A)16=0.00, dup(A)18=0.00
Allele Frequency Aggregator African Sub 70 (A)23=1.00 del(A)15=0.00, del(A)13=0.00, del(A)12=0.00, del(A)11=0.00, del(A)10=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dup(A)16=0.00, dup(A)18=0.00
Allele Frequency Aggregator Asian Sub 30 (A)23=1.00 del(A)15=0.00, del(A)13=0.00, del(A)12=0.00, del(A)11=0.00, del(A)10=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dup(A)16=0.00, dup(A)18=0.00
Allele Frequency Aggregator Latin American 1 Sub 26 (A)23=1.00 del(A)15=0.00, del(A)13=0.00, del(A)12=0.00, del(A)11=0.00, del(A)10=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dup(A)16=0.00, dup(A)18=0.00
Allele Frequency Aggregator South Asian Sub 20 (A)23=1.00 del(A)15=0.00, del(A)13=0.00, del(A)12=0.00, del(A)11=0.00, del(A)10=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dup(A)16=0.00, dup(A)18=0.00
1000Genomes Global Study-wide 5008 (A)23=0.3496 delAA=0.6504
1000Genomes African Sub 1322 (A)23=0.2300 delAA=0.7700
1000Genomes East Asian Sub 1008 (A)23=0.4107 delAA=0.5893
1000Genomes Europe Sub 1006 (A)23=0.3608 delAA=0.6392
1000Genomes South Asian Sub 978 (A)23=0.396 delAA=0.604
1000Genomes American Sub 694 (A)23=0.408 delAA=0.592
The Danish reference pan genome Danish Study-wide 40 (A)23=0.53 delAA=0.47
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 2 NC_000002.12:g.69344195_69344209del
GRCh38.p14 chr 2 NC_000002.12:g.69344197_69344209del
GRCh38.p14 chr 2 NC_000002.12:g.69344198_69344209del
GRCh38.p14 chr 2 NC_000002.12:g.69344199_69344209del
GRCh38.p14 chr 2 NC_000002.12:g.69344200_69344209del
GRCh38.p14 chr 2 NC_000002.12:g.69344201_69344209del
GRCh38.p14 chr 2 NC_000002.12:g.69344202_69344209del
GRCh38.p14 chr 2 NC_000002.12:g.69344203_69344209del
GRCh38.p14 chr 2 NC_000002.12:g.69344204_69344209del
GRCh38.p14 chr 2 NC_000002.12:g.69344205_69344209del
GRCh38.p14 chr 2 NC_000002.12:g.69344206_69344209del
GRCh38.p14 chr 2 NC_000002.12:g.69344207_69344209del
GRCh38.p14 chr 2 NC_000002.12:g.69344208_69344209del
GRCh38.p14 chr 2 NC_000002.12:g.69344209del
GRCh38.p14 chr 2 NC_000002.12:g.69344209dup
GRCh38.p14 chr 2 NC_000002.12:g.69344208_69344209dup
GRCh38.p14 chr 2 NC_000002.12:g.69344207_69344209dup
GRCh38.p14 chr 2 NC_000002.12:g.69344206_69344209dup
GRCh38.p14 chr 2 NC_000002.12:g.69344205_69344209dup
GRCh38.p14 chr 2 NC_000002.12:g.69344204_69344209dup
GRCh38.p14 chr 2 NC_000002.12:g.69344203_69344209dup
GRCh38.p14 chr 2 NC_000002.12:g.69344202_69344209dup
GRCh38.p14 chr 2 NC_000002.12:g.69344199_69344209dup
GRCh38.p14 chr 2 NC_000002.12:g.69344198_69344209dup
GRCh38.p14 chr 2 NC_000002.12:g.69344197_69344209dup
GRCh38.p14 chr 2 NC_000002.12:g.69344196_69344209dup
GRCh38.p14 chr 2 NC_000002.12:g.69344195_69344209dup
GRCh38.p14 chr 2 NC_000002.12:g.69344194_69344209dup
GRCh38.p14 chr 2 NC_000002.12:g.69344193_69344209dup
GRCh38.p14 chr 2 NC_000002.12:g.69344192_69344209dup
GRCh38.p14 chr 2 NC_000002.12:g.69344191_69344209dup
GRCh38.p14 chr 2 NC_000002.12:g.69344190_69344209dup
GRCh38.p14 chr 2 NC_000002.12:g.69344187_69344209dup
GRCh38.p14 chr 2 NC_000002.12:g.69344209_69344210insAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 2 NC_000002.12:g.69344209_69344210insAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 2 NC_000002.12:g.69344209_69344210insAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 2 NC_000002.12:g.69344209_69344210insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 2 NC_000002.12:g.69344209_69344210insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 2 NC_000002.12:g.69344187_69344209A[23]CAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 2 NC_000002.11:g.69571327_69571341del
GRCh37.p13 chr 2 NC_000002.11:g.69571329_69571341del
GRCh37.p13 chr 2 NC_000002.11:g.69571330_69571341del
GRCh37.p13 chr 2 NC_000002.11:g.69571331_69571341del
GRCh37.p13 chr 2 NC_000002.11:g.69571332_69571341del
GRCh37.p13 chr 2 NC_000002.11:g.69571333_69571341del
GRCh37.p13 chr 2 NC_000002.11:g.69571334_69571341del
GRCh37.p13 chr 2 NC_000002.11:g.69571335_69571341del
GRCh37.p13 chr 2 NC_000002.11:g.69571336_69571341del
GRCh37.p13 chr 2 NC_000002.11:g.69571337_69571341del
GRCh37.p13 chr 2 NC_000002.11:g.69571338_69571341del
GRCh37.p13 chr 2 NC_000002.11:g.69571339_69571341del
GRCh37.p13 chr 2 NC_000002.11:g.69571340_69571341del
GRCh37.p13 chr 2 NC_000002.11:g.69571341del
GRCh37.p13 chr 2 NC_000002.11:g.69571341dup
GRCh37.p13 chr 2 NC_000002.11:g.69571340_69571341dup
GRCh37.p13 chr 2 NC_000002.11:g.69571339_69571341dup
GRCh37.p13 chr 2 NC_000002.11:g.69571338_69571341dup
GRCh37.p13 chr 2 NC_000002.11:g.69571337_69571341dup
GRCh37.p13 chr 2 NC_000002.11:g.69571336_69571341dup
GRCh37.p13 chr 2 NC_000002.11:g.69571335_69571341dup
GRCh37.p13 chr 2 NC_000002.11:g.69571334_69571341dup
GRCh37.p13 chr 2 NC_000002.11:g.69571331_69571341dup
GRCh37.p13 chr 2 NC_000002.11:g.69571330_69571341dup
GRCh37.p13 chr 2 NC_000002.11:g.69571329_69571341dup
GRCh37.p13 chr 2 NC_000002.11:g.69571328_69571341dup
GRCh37.p13 chr 2 NC_000002.11:g.69571327_69571341dup
GRCh37.p13 chr 2 NC_000002.11:g.69571326_69571341dup
GRCh37.p13 chr 2 NC_000002.11:g.69571325_69571341dup
GRCh37.p13 chr 2 NC_000002.11:g.69571324_69571341dup
GRCh37.p13 chr 2 NC_000002.11:g.69571323_69571341dup
GRCh37.p13 chr 2 NC_000002.11:g.69571322_69571341dup
GRCh37.p13 chr 2 NC_000002.11:g.69571319_69571341dup
GRCh37.p13 chr 2 NC_000002.11:g.69571341_69571342insAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 2 NC_000002.11:g.69571341_69571342insAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 2 NC_000002.11:g.69571341_69571342insAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 2 NC_000002.11:g.69571341_69571342insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 2 NC_000002.11:g.69571341_69571342insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 2 NC_000002.11:g.69571319_69571341A[23]CAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GFPT1 RefSeqGene (LRG_787) NG_029542.1:g.48050_48064del
GFPT1 RefSeqGene (LRG_787) NG_029542.1:g.48052_48064del
GFPT1 RefSeqGene (LRG_787) NG_029542.1:g.48053_48064del
GFPT1 RefSeqGene (LRG_787) NG_029542.1:g.48054_48064del
GFPT1 RefSeqGene (LRG_787) NG_029542.1:g.48055_48064del
GFPT1 RefSeqGene (LRG_787) NG_029542.1:g.48056_48064del
GFPT1 RefSeqGene (LRG_787) NG_029542.1:g.48057_48064del
GFPT1 RefSeqGene (LRG_787) NG_029542.1:g.48058_48064del
GFPT1 RefSeqGene (LRG_787) NG_029542.1:g.48059_48064del
GFPT1 RefSeqGene (LRG_787) NG_029542.1:g.48060_48064del
GFPT1 RefSeqGene (LRG_787) NG_029542.1:g.48061_48064del
GFPT1 RefSeqGene (LRG_787) NG_029542.1:g.48062_48064del
GFPT1 RefSeqGene (LRG_787) NG_029542.1:g.48063_48064del
GFPT1 RefSeqGene (LRG_787) NG_029542.1:g.48064del
GFPT1 RefSeqGene (LRG_787) NG_029542.1:g.48064dup
GFPT1 RefSeqGene (LRG_787) NG_029542.1:g.48063_48064dup
GFPT1 RefSeqGene (LRG_787) NG_029542.1:g.48062_48064dup
GFPT1 RefSeqGene (LRG_787) NG_029542.1:g.48061_48064dup
GFPT1 RefSeqGene (LRG_787) NG_029542.1:g.48060_48064dup
GFPT1 RefSeqGene (LRG_787) NG_029542.1:g.48059_48064dup
GFPT1 RefSeqGene (LRG_787) NG_029542.1:g.48058_48064dup
GFPT1 RefSeqGene (LRG_787) NG_029542.1:g.48057_48064dup
GFPT1 RefSeqGene (LRG_787) NG_029542.1:g.48054_48064dup
GFPT1 RefSeqGene (LRG_787) NG_029542.1:g.48053_48064dup
GFPT1 RefSeqGene (LRG_787) NG_029542.1:g.48052_48064dup
GFPT1 RefSeqGene (LRG_787) NG_029542.1:g.48051_48064dup
GFPT1 RefSeqGene (LRG_787) NG_029542.1:g.48050_48064dup
GFPT1 RefSeqGene (LRG_787) NG_029542.1:g.48049_48064dup
GFPT1 RefSeqGene (LRG_787) NG_029542.1:g.48048_48064dup
GFPT1 RefSeqGene (LRG_787) NG_029542.1:g.48047_48064dup
GFPT1 RefSeqGene (LRG_787) NG_029542.1:g.48046_48064dup
GFPT1 RefSeqGene (LRG_787) NG_029542.1:g.48045_48064dup
GFPT1 RefSeqGene (LRG_787) NG_029542.1:g.48042_48064dup
GFPT1 RefSeqGene (LRG_787) NG_029542.1:g.48064_48065insTTTTTTTTTTTTTTTTTTTTTTTT
GFPT1 RefSeqGene (LRG_787) NG_029542.1:g.48064_48065insTTTTTTTTTTTTTTTTTTTTTTTTT
GFPT1 RefSeqGene (LRG_787) NG_029542.1:g.48064_48065insTTTTTTTTTTTTTTTTTTTTTTTTTT
GFPT1 RefSeqGene (LRG_787) NG_029542.1:g.48064_48065insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GFPT1 RefSeqGene (LRG_787) NG_029542.1:g.48064_48065insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GFPT1 RefSeqGene (LRG_787) NG_029542.1:g.48042_48064T[27]GTTTTTTTTTTTTTTTTTTTTTTT[1]
Gene: GFPT1, glutamine--fructose-6-phosphate transaminase 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
GFPT1 transcript variant 1 NM_001244710.2:c.1105+170…

NM_001244710.2:c.1105+1703_1105+1717del

N/A Intron Variant
GFPT1 transcript variant 2 NM_002056.4:c.1051+1703_1…

NM_002056.4:c.1051+1703_1051+1717del

N/A Intron Variant
GFPT1 transcript variant X1 XM_017003801.2:c.1180+170…

XM_017003801.2:c.1180+1703_1180+1717del

N/A Intron Variant
GFPT1 transcript variant X2 XM_017003802.3:c.1126+170…

XM_017003802.3:c.1126+1703_1126+1717del

N/A Intron 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)23= del(A)15 del(A)13 del(A)12 del(A)11 del(A)10 del(A)9 del(A)8 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)8 dup(A)11 dup(A)12 dup(A)13 dup(A)14 dup(A)15 dup(A)16 dup(A)17 dup(A)18 dup(A)19 dup(A)20 dup(A)23 ins(A)24 ins(A)25 ins(A)26 ins(A)34 ins(A)41 insC(A)27
GRCh38.p14 chr 2 NC_000002.12:g.69344187_69344209= NC_000002.12:g.69344195_69344209del NC_000002.12:g.69344197_69344209del NC_000002.12:g.69344198_69344209del NC_000002.12:g.69344199_69344209del NC_000002.12:g.69344200_69344209del NC_000002.12:g.69344201_69344209del NC_000002.12:g.69344202_69344209del NC_000002.12:g.69344203_69344209del NC_000002.12:g.69344204_69344209del NC_000002.12:g.69344205_69344209del NC_000002.12:g.69344206_69344209del NC_000002.12:g.69344207_69344209del NC_000002.12:g.69344208_69344209del NC_000002.12:g.69344209del NC_000002.12:g.69344209dup NC_000002.12:g.69344208_69344209dup NC_000002.12:g.69344207_69344209dup NC_000002.12:g.69344206_69344209dup NC_000002.12:g.69344205_69344209dup NC_000002.12:g.69344204_69344209dup NC_000002.12:g.69344203_69344209dup NC_000002.12:g.69344202_69344209dup NC_000002.12:g.69344199_69344209dup NC_000002.12:g.69344198_69344209dup NC_000002.12:g.69344197_69344209dup NC_000002.12:g.69344196_69344209dup NC_000002.12:g.69344195_69344209dup NC_000002.12:g.69344194_69344209dup NC_000002.12:g.69344193_69344209dup NC_000002.12:g.69344192_69344209dup NC_000002.12:g.69344191_69344209dup NC_000002.12:g.69344190_69344209dup NC_000002.12:g.69344187_69344209dup NC_000002.12:g.69344209_69344210insAAAAAAAAAAAAAAAAAAAAAAAA NC_000002.12:g.69344209_69344210insAAAAAAAAAAAAAAAAAAAAAAAAA NC_000002.12:g.69344209_69344210insAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000002.12:g.69344209_69344210insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000002.12:g.69344209_69344210insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000002.12:g.69344187_69344209A[23]CAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 2 NC_000002.11:g.69571319_69571341= NC_000002.11:g.69571327_69571341del NC_000002.11:g.69571329_69571341del NC_000002.11:g.69571330_69571341del NC_000002.11:g.69571331_69571341del NC_000002.11:g.69571332_69571341del NC_000002.11:g.69571333_69571341del NC_000002.11:g.69571334_69571341del NC_000002.11:g.69571335_69571341del NC_000002.11:g.69571336_69571341del NC_000002.11:g.69571337_69571341del NC_000002.11:g.69571338_69571341del NC_000002.11:g.69571339_69571341del NC_000002.11:g.69571340_69571341del NC_000002.11:g.69571341del NC_000002.11:g.69571341dup NC_000002.11:g.69571340_69571341dup NC_000002.11:g.69571339_69571341dup NC_000002.11:g.69571338_69571341dup NC_000002.11:g.69571337_69571341dup NC_000002.11:g.69571336_69571341dup NC_000002.11:g.69571335_69571341dup NC_000002.11:g.69571334_69571341dup NC_000002.11:g.69571331_69571341dup NC_000002.11:g.69571330_69571341dup NC_000002.11:g.69571329_69571341dup NC_000002.11:g.69571328_69571341dup NC_000002.11:g.69571327_69571341dup NC_000002.11:g.69571326_69571341dup NC_000002.11:g.69571325_69571341dup NC_000002.11:g.69571324_69571341dup NC_000002.11:g.69571323_69571341dup NC_000002.11:g.69571322_69571341dup NC_000002.11:g.69571319_69571341dup NC_000002.11:g.69571341_69571342insAAAAAAAAAAAAAAAAAAAAAAAA NC_000002.11:g.69571341_69571342insAAAAAAAAAAAAAAAAAAAAAAAAA NC_000002.11:g.69571341_69571342insAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000002.11:g.69571341_69571342insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000002.11:g.69571341_69571342insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000002.11:g.69571319_69571341A[23]CAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GFPT1 RefSeqGene (LRG_787) NG_029542.1:g.48042_48064= NG_029542.1:g.48050_48064del NG_029542.1:g.48052_48064del NG_029542.1:g.48053_48064del NG_029542.1:g.48054_48064del NG_029542.1:g.48055_48064del NG_029542.1:g.48056_48064del NG_029542.1:g.48057_48064del NG_029542.1:g.48058_48064del NG_029542.1:g.48059_48064del NG_029542.1:g.48060_48064del NG_029542.1:g.48061_48064del NG_029542.1:g.48062_48064del NG_029542.1:g.48063_48064del NG_029542.1:g.48064del NG_029542.1:g.48064dup NG_029542.1:g.48063_48064dup NG_029542.1:g.48062_48064dup NG_029542.1:g.48061_48064dup NG_029542.1:g.48060_48064dup NG_029542.1:g.48059_48064dup NG_029542.1:g.48058_48064dup NG_029542.1:g.48057_48064dup NG_029542.1:g.48054_48064dup NG_029542.1:g.48053_48064dup NG_029542.1:g.48052_48064dup NG_029542.1:g.48051_48064dup NG_029542.1:g.48050_48064dup NG_029542.1:g.48049_48064dup NG_029542.1:g.48048_48064dup NG_029542.1:g.48047_48064dup NG_029542.1:g.48046_48064dup NG_029542.1:g.48045_48064dup NG_029542.1:g.48042_48064dup NG_029542.1:g.48064_48065insTTTTTTTTTTTTTTTTTTTTTTTT NG_029542.1:g.48064_48065insTTTTTTTTTTTTTTTTTTTTTTTTT NG_029542.1:g.48064_48065insTTTTTTTTTTTTTTTTTTTTTTTTTT NG_029542.1:g.48064_48065insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NG_029542.1:g.48064_48065insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NG_029542.1:g.48042_48064T[27]GTTTTTTTTTTTTTTTTTTTTTTT[1]
GFPT1 transcript variant 1 NM_001244710.1:c.1105+1717= NM_001244710.1:c.1105+1703_1105+1717del NM_001244710.1:c.1105+1705_1105+1717del NM_001244710.1:c.1105+1706_1105+1717del NM_001244710.1:c.1105+1707_1105+1717del NM_001244710.1:c.1105+1708_1105+1717del NM_001244710.1:c.1105+1709_1105+1717del NM_001244710.1:c.1105+1710_1105+1717del NM_001244710.1:c.1105+1711_1105+1717del NM_001244710.1:c.1105+1712_1105+1717del NM_001244710.1:c.1105+1713_1105+1717del NM_001244710.1:c.1105+1714_1105+1717del NM_001244710.1:c.1105+1715_1105+1717del NM_001244710.1:c.1105+1716_1105+1717del NM_001244710.1:c.1105+1717del NM_001244710.1:c.1105+1717dup NM_001244710.1:c.1105+1716_1105+1717dup NM_001244710.1:c.1105+1715_1105+1717dup NM_001244710.1:c.1105+1714_1105+1717dup NM_001244710.1:c.1105+1713_1105+1717dup NM_001244710.1:c.1105+1712_1105+1717dup NM_001244710.1:c.1105+1711_1105+1717dup NM_001244710.1:c.1105+1710_1105+1717dup NM_001244710.1:c.1105+1707_1105+1717dup NM_001244710.1:c.1105+1706_1105+1717dup NM_001244710.1:c.1105+1705_1105+1717dup NM_001244710.1:c.1105+1704_1105+1717dup NM_001244710.1:c.1105+1703_1105+1717dup NM_001244710.1:c.1105+1702_1105+1717dup NM_001244710.1:c.1105+1701_1105+1717dup NM_001244710.1:c.1105+1700_1105+1717dup NM_001244710.1:c.1105+1699_1105+1717dup NM_001244710.1:c.1105+1698_1105+1717dup NM_001244710.1:c.1105+1695_1105+1717dup NM_001244710.1:c.1105+1717_1105+1718insTTTTTTTTTTTTTTTTTTTTTTTT NM_001244710.1:c.1105+1717_1105+1718insTTTTTTTTTTTTTTTTTTTTTTTTT NM_001244710.1:c.1105+1717_1105+1718insTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001244710.1:c.1105+1717_1105+1718insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001244710.1:c.1105+1717_1105+1718insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001244710.1:c.1105+1717_1105+1718insTTTTTTTTTTTTTTTTTTTTTTTTTTTG
GFPT1 transcript variant 1 NM_001244710.2:c.1105+1717= NM_001244710.2:c.1105+1703_1105+1717del NM_001244710.2:c.1105+1705_1105+1717del NM_001244710.2:c.1105+1706_1105+1717del NM_001244710.2:c.1105+1707_1105+1717del NM_001244710.2:c.1105+1708_1105+1717del NM_001244710.2:c.1105+1709_1105+1717del NM_001244710.2:c.1105+1710_1105+1717del NM_001244710.2:c.1105+1711_1105+1717del NM_001244710.2:c.1105+1712_1105+1717del NM_001244710.2:c.1105+1713_1105+1717del NM_001244710.2:c.1105+1714_1105+1717del NM_001244710.2:c.1105+1715_1105+1717del NM_001244710.2:c.1105+1716_1105+1717del NM_001244710.2:c.1105+1717del NM_001244710.2:c.1105+1717dup NM_001244710.2:c.1105+1716_1105+1717dup NM_001244710.2:c.1105+1715_1105+1717dup NM_001244710.2:c.1105+1714_1105+1717dup NM_001244710.2:c.1105+1713_1105+1717dup NM_001244710.2:c.1105+1712_1105+1717dup NM_001244710.2:c.1105+1711_1105+1717dup NM_001244710.2:c.1105+1710_1105+1717dup NM_001244710.2:c.1105+1707_1105+1717dup NM_001244710.2:c.1105+1706_1105+1717dup NM_001244710.2:c.1105+1705_1105+1717dup NM_001244710.2:c.1105+1704_1105+1717dup NM_001244710.2:c.1105+1703_1105+1717dup NM_001244710.2:c.1105+1702_1105+1717dup NM_001244710.2:c.1105+1701_1105+1717dup NM_001244710.2:c.1105+1700_1105+1717dup NM_001244710.2:c.1105+1699_1105+1717dup NM_001244710.2:c.1105+1698_1105+1717dup NM_001244710.2:c.1105+1695_1105+1717dup NM_001244710.2:c.1105+1717_1105+1718insTTTTTTTTTTTTTTTTTTTTTTTT NM_001244710.2:c.1105+1717_1105+1718insTTTTTTTTTTTTTTTTTTTTTTTTT NM_001244710.2:c.1105+1717_1105+1718insTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001244710.2:c.1105+1717_1105+1718insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001244710.2:c.1105+1717_1105+1718insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001244710.2:c.1105+1717_1105+1718insTTTTTTTTTTTTTTTTTTTTTTTTTTTG
GFPT1 transcript variant 2 NM_002056.3:c.1051+1717= NM_002056.3:c.1051+1703_1051+1717del NM_002056.3:c.1051+1705_1051+1717del NM_002056.3:c.1051+1706_1051+1717del NM_002056.3:c.1051+1707_1051+1717del NM_002056.3:c.1051+1708_1051+1717del NM_002056.3:c.1051+1709_1051+1717del NM_002056.3:c.1051+1710_1051+1717del NM_002056.3:c.1051+1711_1051+1717del NM_002056.3:c.1051+1712_1051+1717del NM_002056.3:c.1051+1713_1051+1717del NM_002056.3:c.1051+1714_1051+1717del NM_002056.3:c.1051+1715_1051+1717del NM_002056.3:c.1051+1716_1051+1717del NM_002056.3:c.1051+1717del NM_002056.3:c.1051+1717dup NM_002056.3:c.1051+1716_1051+1717dup NM_002056.3:c.1051+1715_1051+1717dup NM_002056.3:c.1051+1714_1051+1717dup NM_002056.3:c.1051+1713_1051+1717dup NM_002056.3:c.1051+1712_1051+1717dup NM_002056.3:c.1051+1711_1051+1717dup NM_002056.3:c.1051+1710_1051+1717dup NM_002056.3:c.1051+1707_1051+1717dup NM_002056.3:c.1051+1706_1051+1717dup NM_002056.3:c.1051+1705_1051+1717dup NM_002056.3:c.1051+1704_1051+1717dup NM_002056.3:c.1051+1703_1051+1717dup NM_002056.3:c.1051+1702_1051+1717dup NM_002056.3:c.1051+1701_1051+1717dup NM_002056.3:c.1051+1700_1051+1717dup NM_002056.3:c.1051+1699_1051+1717dup NM_002056.3:c.1051+1698_1051+1717dup NM_002056.3:c.1051+1695_1051+1717dup NM_002056.3:c.1051+1717_1051+1718insTTTTTTTTTTTTTTTTTTTTTTTT NM_002056.3:c.1051+1717_1051+1718insTTTTTTTTTTTTTTTTTTTTTTTTT NM_002056.3:c.1051+1717_1051+1718insTTTTTTTTTTTTTTTTTTTTTTTTTT NM_002056.3:c.1051+1717_1051+1718insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_002056.3:c.1051+1717_1051+1718insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_002056.3:c.1051+1717_1051+1718insTTTTTTTTTTTTTTTTTTTTTTTTTTTG
GFPT1 transcript variant 2 NM_002056.4:c.1051+1717= NM_002056.4:c.1051+1703_1051+1717del NM_002056.4:c.1051+1705_1051+1717del NM_002056.4:c.1051+1706_1051+1717del NM_002056.4:c.1051+1707_1051+1717del NM_002056.4:c.1051+1708_1051+1717del NM_002056.4:c.1051+1709_1051+1717del NM_002056.4:c.1051+1710_1051+1717del NM_002056.4:c.1051+1711_1051+1717del NM_002056.4:c.1051+1712_1051+1717del NM_002056.4:c.1051+1713_1051+1717del NM_002056.4:c.1051+1714_1051+1717del NM_002056.4:c.1051+1715_1051+1717del NM_002056.4:c.1051+1716_1051+1717del NM_002056.4:c.1051+1717del NM_002056.4:c.1051+1717dup NM_002056.4:c.1051+1716_1051+1717dup NM_002056.4:c.1051+1715_1051+1717dup NM_002056.4:c.1051+1714_1051+1717dup NM_002056.4:c.1051+1713_1051+1717dup NM_002056.4:c.1051+1712_1051+1717dup NM_002056.4:c.1051+1711_1051+1717dup NM_002056.4:c.1051+1710_1051+1717dup NM_002056.4:c.1051+1707_1051+1717dup NM_002056.4:c.1051+1706_1051+1717dup NM_002056.4:c.1051+1705_1051+1717dup NM_002056.4:c.1051+1704_1051+1717dup NM_002056.4:c.1051+1703_1051+1717dup NM_002056.4:c.1051+1702_1051+1717dup NM_002056.4:c.1051+1701_1051+1717dup NM_002056.4:c.1051+1700_1051+1717dup NM_002056.4:c.1051+1699_1051+1717dup NM_002056.4:c.1051+1698_1051+1717dup NM_002056.4:c.1051+1695_1051+1717dup NM_002056.4:c.1051+1717_1051+1718insTTTTTTTTTTTTTTTTTTTTTTTT NM_002056.4:c.1051+1717_1051+1718insTTTTTTTTTTTTTTTTTTTTTTTTT NM_002056.4:c.1051+1717_1051+1718insTTTTTTTTTTTTTTTTTTTTTTTTTT NM_002056.4:c.1051+1717_1051+1718insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_002056.4:c.1051+1717_1051+1718insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_002056.4:c.1051+1717_1051+1718insTTTTTTTTTTTTTTTTTTTTTTTTTTTG
GFPT1 transcript variant X1 XM_017003801.2:c.1180+1717= XM_017003801.2:c.1180+1703_1180+1717del XM_017003801.2:c.1180+1705_1180+1717del XM_017003801.2:c.1180+1706_1180+1717del XM_017003801.2:c.1180+1707_1180+1717del XM_017003801.2:c.1180+1708_1180+1717del XM_017003801.2:c.1180+1709_1180+1717del XM_017003801.2:c.1180+1710_1180+1717del XM_017003801.2:c.1180+1711_1180+1717del XM_017003801.2:c.1180+1712_1180+1717del XM_017003801.2:c.1180+1713_1180+1717del XM_017003801.2:c.1180+1714_1180+1717del XM_017003801.2:c.1180+1715_1180+1717del XM_017003801.2:c.1180+1716_1180+1717del XM_017003801.2:c.1180+1717del XM_017003801.2:c.1180+1717dup XM_017003801.2:c.1180+1716_1180+1717dup XM_017003801.2:c.1180+1715_1180+1717dup XM_017003801.2:c.1180+1714_1180+1717dup XM_017003801.2:c.1180+1713_1180+1717dup XM_017003801.2:c.1180+1712_1180+1717dup XM_017003801.2:c.1180+1711_1180+1717dup XM_017003801.2:c.1180+1710_1180+1717dup XM_017003801.2:c.1180+1707_1180+1717dup XM_017003801.2:c.1180+1706_1180+1717dup XM_017003801.2:c.1180+1705_1180+1717dup XM_017003801.2:c.1180+1704_1180+1717dup XM_017003801.2:c.1180+1703_1180+1717dup XM_017003801.2:c.1180+1702_1180+1717dup XM_017003801.2:c.1180+1701_1180+1717dup XM_017003801.2:c.1180+1700_1180+1717dup XM_017003801.2:c.1180+1699_1180+1717dup XM_017003801.2:c.1180+1698_1180+1717dup XM_017003801.2:c.1180+1695_1180+1717dup XM_017003801.2:c.1180+1717_1180+1718insTTTTTTTTTTTTTTTTTTTTTTTT XM_017003801.2:c.1180+1717_1180+1718insTTTTTTTTTTTTTTTTTTTTTTTTT XM_017003801.2:c.1180+1717_1180+1718insTTTTTTTTTTTTTTTTTTTTTTTTTT XM_017003801.2:c.1180+1717_1180+1718insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_017003801.2:c.1180+1717_1180+1718insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_017003801.2:c.1180+1717_1180+1718insTTTTTTTTTTTTTTTTTTTTTTTTTTTG
GFPT1 transcript variant X2 XM_017003802.3:c.1126+1717= XM_017003802.3:c.1126+1703_1126+1717del XM_017003802.3:c.1126+1705_1126+1717del XM_017003802.3:c.1126+1706_1126+1717del XM_017003802.3:c.1126+1707_1126+1717del XM_017003802.3:c.1126+1708_1126+1717del XM_017003802.3:c.1126+1709_1126+1717del XM_017003802.3:c.1126+1710_1126+1717del XM_017003802.3:c.1126+1711_1126+1717del XM_017003802.3:c.1126+1712_1126+1717del XM_017003802.3:c.1126+1713_1126+1717del XM_017003802.3:c.1126+1714_1126+1717del XM_017003802.3:c.1126+1715_1126+1717del XM_017003802.3:c.1126+1716_1126+1717del XM_017003802.3:c.1126+1717del XM_017003802.3:c.1126+1717dup XM_017003802.3:c.1126+1716_1126+1717dup XM_017003802.3:c.1126+1715_1126+1717dup XM_017003802.3:c.1126+1714_1126+1717dup XM_017003802.3:c.1126+1713_1126+1717dup XM_017003802.3:c.1126+1712_1126+1717dup XM_017003802.3:c.1126+1711_1126+1717dup XM_017003802.3:c.1126+1710_1126+1717dup XM_017003802.3:c.1126+1707_1126+1717dup XM_017003802.3:c.1126+1706_1126+1717dup XM_017003802.3:c.1126+1705_1126+1717dup XM_017003802.3:c.1126+1704_1126+1717dup XM_017003802.3:c.1126+1703_1126+1717dup XM_017003802.3:c.1126+1702_1126+1717dup XM_017003802.3:c.1126+1701_1126+1717dup XM_017003802.3:c.1126+1700_1126+1717dup XM_017003802.3:c.1126+1699_1126+1717dup XM_017003802.3:c.1126+1698_1126+1717dup XM_017003802.3:c.1126+1695_1126+1717dup XM_017003802.3:c.1126+1717_1126+1718insTTTTTTTTTTTTTTTTTTTTTTTT XM_017003802.3:c.1126+1717_1126+1718insTTTTTTTTTTTTTTTTTTTTTTTTT XM_017003802.3:c.1126+1717_1126+1718insTTTTTTTTTTTTTTTTTTTTTTTTTT XM_017003802.3:c.1126+1717_1126+1718insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_017003802.3:c.1126+1717_1126+1718insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_017003802.3:c.1126+1717_1126+1718insTTTTTTTTTTTTTTTTTTTTTTTTTTTG
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#.

70 SubSNP, 47 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss41637405 Mar 15, 2016 (147)
2 ABI ss41815028 Mar 15, 2006 (137)
3 HGSV ss82092321 Dec 14, 2007 (130)
4 HGSV ss83046098 Dec 14, 2007 (130)
5 1000GENOMES ss1368293626 Aug 21, 2014 (142)
6 EVA_GENOME_DK ss1575432242 Apr 01, 2015 (144)
7 SWEGEN ss2989698941 Nov 08, 2017 (151)
8 MCHAISSO ss3065746442 Jan 10, 2018 (151)
9 PACBIO ss3789474970 Jul 13, 2019 (153)
10 PACBIO ss3794347910 Jul 13, 2019 (153)
11 KHV_HUMAN_GENOMES ss3801275013 Jul 13, 2019 (153)
12 EVA ss3827040717 Apr 25, 2020 (154)
13 GNOMAD ss4043412822 Apr 26, 2021 (155)
14 GNOMAD ss4043412823 Apr 26, 2021 (155)
15 GNOMAD ss4043412824 Apr 26, 2021 (155)
16 GNOMAD ss4043412825 Apr 26, 2021 (155)
17 GNOMAD ss4043412826 Apr 26, 2021 (155)
18 GNOMAD ss4043412827 Apr 26, 2021 (155)
19 GNOMAD ss4043412828 Apr 26, 2021 (155)
20 GNOMAD ss4043412829 Apr 26, 2021 (155)
21 GNOMAD ss4043412830 Apr 26, 2021 (155)
22 GNOMAD ss4043412831 Apr 26, 2021 (155)
23 GNOMAD ss4043412832 Apr 26, 2021 (155)
24 GNOMAD ss4043412833 Apr 26, 2021 (155)
25 GNOMAD ss4043412834 Apr 26, 2021 (155)
26 GNOMAD ss4043412835 Apr 26, 2021 (155)
27 GNOMAD ss4043412836 Apr 26, 2021 (155)
28 GNOMAD ss4043412837 Apr 26, 2021 (155)
29 GNOMAD ss4043412838 Apr 26, 2021 (155)
30 GNOMAD ss4043412839 Apr 26, 2021 (155)
31 GNOMAD ss4043412840 Apr 26, 2021 (155)
32 GNOMAD ss4043412841 Apr 26, 2021 (155)
33 GNOMAD ss4043412842 Apr 26, 2021 (155)
34 GNOMAD ss4043412843 Apr 26, 2021 (155)
35 GNOMAD ss4043412844 Apr 26, 2021 (155)
36 GNOMAD ss4043412845 Apr 26, 2021 (155)
37 GNOMAD ss4043412846 Apr 26, 2021 (155)
38 GNOMAD ss4043412848 Apr 26, 2021 (155)
39 GNOMAD ss4043412849 Apr 26, 2021 (155)
40 GNOMAD ss4043412850 Apr 26, 2021 (155)
41 GNOMAD ss4043412851 Apr 26, 2021 (155)
42 GNOMAD ss4043412852 Apr 26, 2021 (155)
43 GNOMAD ss4043412853 Apr 26, 2021 (155)
44 GNOMAD ss4043412854 Apr 26, 2021 (155)
45 GNOMAD ss4043412855 Apr 26, 2021 (155)
46 GNOMAD ss4043412856 Apr 26, 2021 (155)
47 GNOMAD ss4043412857 Apr 26, 2021 (155)
48 GNOMAD ss4043412858 Apr 26, 2021 (155)
49 TOMMO_GENOMICS ss5151910193 Apr 26, 2021 (155)
50 TOMMO_GENOMICS ss5151910194 Apr 26, 2021 (155)
51 TOMMO_GENOMICS ss5151910195 Apr 26, 2021 (155)
52 TOMMO_GENOMICS ss5151910196 Apr 26, 2021 (155)
53 1000G_HIGH_COVERAGE ss5248479302 Oct 12, 2022 (156)
54 1000G_HIGH_COVERAGE ss5248479303 Oct 12, 2022 (156)
55 1000G_HIGH_COVERAGE ss5248479304 Oct 12, 2022 (156)
56 1000G_HIGH_COVERAGE ss5248479305 Oct 12, 2022 (156)
57 1000G_HIGH_COVERAGE ss5248479306 Oct 12, 2022 (156)
58 1000G_HIGH_COVERAGE ss5248479307 Oct 12, 2022 (156)
59 HUGCELL_USP ss5448644371 Oct 12, 2022 (156)
60 HUGCELL_USP ss5448644372 Oct 12, 2022 (156)
61 HUGCELL_USP ss5448644373 Oct 12, 2022 (156)
62 HUGCELL_USP ss5448644374 Oct 12, 2022 (156)
63 TOMMO_GENOMICS ss5680690872 Oct 12, 2022 (156)
64 TOMMO_GENOMICS ss5680690874 Oct 12, 2022 (156)
65 TOMMO_GENOMICS ss5680690875 Oct 12, 2022 (156)
66 TOMMO_GENOMICS ss5680690876 Oct 12, 2022 (156)
67 EVA ss5820260157 Oct 12, 2022 (156)
68 EVA ss5820260158 Oct 12, 2022 (156)
69 EVA ss5820260159 Oct 12, 2022 (156)
70 EVA ss5930853557 Oct 12, 2022 (156)
71 1000Genomes NC_000002.11 - 69571319 Oct 11, 2018 (152)
72 The Danish reference pan genome NC_000002.11 - 69571319 Apr 25, 2020 (154)
73 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 61718793 (NC_000002.12:69344186::A 913/60094)
Row 61718794 (NC_000002.12:69344186::AA 85/60302)
Row 61718795 (NC_000002.12:69344186::AAA 127/60154)...

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

Submission ignored due to conflicting rows:
Row 61718793 (NC_000002.12:69344186::A 913/60094)
Row 61718794 (NC_000002.12:69344186::AA 85/60302)
Row 61718795 (NC_000002.12:69344186::AAA 127/60154)...

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

Submission ignored due to conflicting rows:
Row 61718793 (NC_000002.12:69344186::A 913/60094)
Row 61718794 (NC_000002.12:69344186::AA 85/60302)
Row 61718795 (NC_000002.12:69344186::AAA 127/60154)...

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

Submission ignored due to conflicting rows:
Row 61718793 (NC_000002.12:69344186::A 913/60094)
Row 61718794 (NC_000002.12:69344186::AA 85/60302)
Row 61718795 (NC_000002.12:69344186::AAA 127/60154)...

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

Submission ignored due to conflicting rows:
Row 61718793 (NC_000002.12:69344186::A 913/60094)
Row 61718794 (NC_000002.12:69344186::AA 85/60302)
Row 61718795 (NC_000002.12:69344186::AAA 127/60154)...

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

Submission ignored due to conflicting rows:
Row 61718793 (NC_000002.12:69344186::A 913/60094)
Row 61718794 (NC_000002.12:69344186::AA 85/60302)
Row 61718795 (NC_000002.12:69344186::AAA 127/60154)...

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

Submission ignored due to conflicting rows:
Row 61718793 (NC_000002.12:69344186::A 913/60094)
Row 61718794 (NC_000002.12:69344186::AA 85/60302)
Row 61718795 (NC_000002.12:69344186::AAA 127/60154)...

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

Submission ignored due to conflicting rows:
Row 61718793 (NC_000002.12:69344186::A 913/60094)
Row 61718794 (NC_000002.12:69344186::AA 85/60302)
Row 61718795 (NC_000002.12:69344186::AAA 127/60154)...

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

Submission ignored due to conflicting rows:
Row 61718793 (NC_000002.12:69344186::A 913/60094)
Row 61718794 (NC_000002.12:69344186::AA 85/60302)
Row 61718795 (NC_000002.12:69344186::AAA 127/60154)...

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

Submission ignored due to conflicting rows:
Row 61718793 (NC_000002.12:69344186::A 913/60094)
Row 61718794 (NC_000002.12:69344186::AA 85/60302)
Row 61718795 (NC_000002.12:69344186::AAA 127/60154)...

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

Submission ignored due to conflicting rows:
Row 61718793 (NC_000002.12:69344186::A 913/60094)
Row 61718794 (NC_000002.12:69344186::AA 85/60302)
Row 61718795 (NC_000002.12:69344186::AAA 127/60154)...

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

Submission ignored due to conflicting rows:
Row 61718793 (NC_000002.12:69344186::A 913/60094)
Row 61718794 (NC_000002.12:69344186::AA 85/60302)
Row 61718795 (NC_000002.12:69344186::AAA 127/60154)...

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

Submission ignored due to conflicting rows:
Row 61718793 (NC_000002.12:69344186::A 913/60094)
Row 61718794 (NC_000002.12:69344186::AA 85/60302)
Row 61718795 (NC_000002.12:69344186::AAA 127/60154)...

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

Submission ignored due to conflicting rows:
Row 61718793 (NC_000002.12:69344186::A 913/60094)
Row 61718794 (NC_000002.12:69344186::AA 85/60302)
Row 61718795 (NC_000002.12:69344186::AAA 127/60154)...

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

Submission ignored due to conflicting rows:
Row 61718793 (NC_000002.12:69344186::A 913/60094)
Row 61718794 (NC_000002.12:69344186::AA 85/60302)
Row 61718795 (NC_000002.12:69344186::AAA 127/60154)...

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

Submission ignored due to conflicting rows:
Row 61718793 (NC_000002.12:69344186::A 913/60094)
Row 61718794 (NC_000002.12:69344186::AA 85/60302)
Row 61718795 (NC_000002.12:69344186::AAA 127/60154)...

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

Submission ignored due to conflicting rows:
Row 61718793 (NC_000002.12:69344186::A 913/60094)
Row 61718794 (NC_000002.12:69344186::AA 85/60302)
Row 61718795 (NC_000002.12:69344186::AAA 127/60154)...

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

Submission ignored due to conflicting rows:
Row 61718793 (NC_000002.12:69344186::A 913/60094)
Row 61718794 (NC_000002.12:69344186::AA 85/60302)
Row 61718795 (NC_000002.12:69344186::AAA 127/60154)...

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

Submission ignored due to conflicting rows:
Row 61718793 (NC_000002.12:69344186::A 913/60094)
Row 61718794 (NC_000002.12:69344186::AA 85/60302)
Row 61718795 (NC_000002.12:69344186::AAA 127/60154)...

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

Submission ignored due to conflicting rows:
Row 61718793 (NC_000002.12:69344186::A 913/60094)
Row 61718794 (NC_000002.12:69344186::AA 85/60302)
Row 61718795 (NC_000002.12:69344186::AAA 127/60154)...

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

Submission ignored due to conflicting rows:
Row 61718793 (NC_000002.12:69344186::A 913/60094)
Row 61718794 (NC_000002.12:69344186::AA 85/60302)
Row 61718795 (NC_000002.12:69344186::AAA 127/60154)...

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

Submission ignored due to conflicting rows:
Row 61718793 (NC_000002.12:69344186::A 913/60094)
Row 61718794 (NC_000002.12:69344186::AA 85/60302)
Row 61718795 (NC_000002.12:69344186::AAA 127/60154)...

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

Submission ignored due to conflicting rows:
Row 61718793 (NC_000002.12:69344186::A 913/60094)
Row 61718794 (NC_000002.12:69344186::AA 85/60302)
Row 61718795 (NC_000002.12:69344186::AAA 127/60154)...

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

Submission ignored due to conflicting rows:
Row 61718793 (NC_000002.12:69344186::A 913/60094)
Row 61718794 (NC_000002.12:69344186::AA 85/60302)
Row 61718795 (NC_000002.12:69344186::AAA 127/60154)...

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

Submission ignored due to conflicting rows:
Row 61718793 (NC_000002.12:69344186::A 913/60094)
Row 61718794 (NC_000002.12:69344186::AA 85/60302)
Row 61718795 (NC_000002.12:69344186::AAA 127/60154)...

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

Submission ignored due to conflicting rows:
Row 61718793 (NC_000002.12:69344186::A 913/60094)
Row 61718794 (NC_000002.12:69344186::AA 85/60302)
Row 61718795 (NC_000002.12:69344186::AAA 127/60154)...

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

Submission ignored due to conflicting rows:
Row 61718793 (NC_000002.12:69344186::A 913/60094)
Row 61718794 (NC_000002.12:69344186::AA 85/60302)
Row 61718795 (NC_000002.12:69344186::AAA 127/60154)...

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

Submission ignored due to conflicting rows:
Row 61718793 (NC_000002.12:69344186::A 913/60094)
Row 61718794 (NC_000002.12:69344186::AA 85/60302)
Row 61718795 (NC_000002.12:69344186::AAA 127/60154)...

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

Submission ignored due to conflicting rows:
Row 61718793 (NC_000002.12:69344186::A 913/60094)
Row 61718794 (NC_000002.12:69344186::AA 85/60302)
Row 61718795 (NC_000002.12:69344186::AAA 127/60154)...

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

Submission ignored due to conflicting rows:
Row 61718793 (NC_000002.12:69344186::A 913/60094)
Row 61718794 (NC_000002.12:69344186::AA 85/60302)
Row 61718795 (NC_000002.12:69344186::AAA 127/60154)...

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

Submission ignored due to conflicting rows:
Row 61718793 (NC_000002.12:69344186::A 913/60094)
Row 61718794 (NC_000002.12:69344186::AA 85/60302)
Row 61718795 (NC_000002.12:69344186::AAA 127/60154)...

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

Submission ignored due to conflicting rows:
Row 61718793 (NC_000002.12:69344186::A 913/60094)
Row 61718794 (NC_000002.12:69344186::AA 85/60302)
Row 61718795 (NC_000002.12:69344186::AAA 127/60154)...

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

Submission ignored due to conflicting rows:
Row 61718793 (NC_000002.12:69344186::A 913/60094)
Row 61718794 (NC_000002.12:69344186::AA 85/60302)
Row 61718795 (NC_000002.12:69344186::AAA 127/60154)...

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

Submission ignored due to conflicting rows:
Row 61718793 (NC_000002.12:69344186::A 913/60094)
Row 61718794 (NC_000002.12:69344186::AA 85/60302)
Row 61718795 (NC_000002.12:69344186::AAA 127/60154)...

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

Submission ignored due to conflicting rows:
Row 61718793 (NC_000002.12:69344186::A 913/60094)
Row 61718794 (NC_000002.12:69344186::AA 85/60302)
Row 61718795 (NC_000002.12:69344186::AAA 127/60154)...

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

Submission ignored due to conflicting rows:
Row 61718793 (NC_000002.12:69344186::A 913/60094)
Row 61718794 (NC_000002.12:69344186::AA 85/60302)
Row 61718795 (NC_000002.12:69344186::AAA 127/60154)...

- Apr 26, 2021 (155)
109 8.3KJPN

Submission ignored due to conflicting rows:
Row 9879500 (NC_000002.11:69571318:AA: 4363/16486)
Row 9879501 (NC_000002.11:69571318::A 278/16486)
Row 9879502 (NC_000002.11:69571318::AA 179/16486)...

- Apr 26, 2021 (155)
110 8.3KJPN

Submission ignored due to conflicting rows:
Row 9879500 (NC_000002.11:69571318:AA: 4363/16486)
Row 9879501 (NC_000002.11:69571318::A 278/16486)
Row 9879502 (NC_000002.11:69571318::AA 179/16486)...

- Apr 26, 2021 (155)
111 8.3KJPN

Submission ignored due to conflicting rows:
Row 9879500 (NC_000002.11:69571318:AA: 4363/16486)
Row 9879501 (NC_000002.11:69571318::A 278/16486)
Row 9879502 (NC_000002.11:69571318::AA 179/16486)...

- Apr 26, 2021 (155)
112 8.3KJPN

Submission ignored due to conflicting rows:
Row 9879500 (NC_000002.11:69571318:AA: 4363/16486)
Row 9879501 (NC_000002.11:69571318::A 278/16486)
Row 9879502 (NC_000002.11:69571318::AA 179/16486)...

- Apr 26, 2021 (155)
113 14KJPN

Submission ignored due to conflicting rows:
Row 14527976 (NC_000002.12:69344186:AA: 9315/27844)
Row 14527978 (NC_000002.12:69344186::A 418/27844)
Row 14527979 (NC_000002.12:69344186::AA 308/27844)...

- Oct 12, 2022 (156)
114 14KJPN

Submission ignored due to conflicting rows:
Row 14527976 (NC_000002.12:69344186:AA: 9315/27844)
Row 14527978 (NC_000002.12:69344186::A 418/27844)
Row 14527979 (NC_000002.12:69344186::AA 308/27844)...

- Oct 12, 2022 (156)
115 14KJPN

Submission ignored due to conflicting rows:
Row 14527976 (NC_000002.12:69344186:AA: 9315/27844)
Row 14527978 (NC_000002.12:69344186::A 418/27844)
Row 14527979 (NC_000002.12:69344186::AA 308/27844)...

- Oct 12, 2022 (156)
116 14KJPN

Submission ignored due to conflicting rows:
Row 14527976 (NC_000002.12:69344186:AA: 9315/27844)
Row 14527978 (NC_000002.12:69344186::A 418/27844)
Row 14527979 (NC_000002.12:69344186::AA 308/27844)...

- Oct 12, 2022 (156)
117 ALFA NC_000002.12 - 69344187 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).

Associated ID History Updated (Build)
rs35636082 May 11, 2012 (137)
rs72450592 May 11, 2012 (137)
rs57558324 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4043412858 NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAA:

NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA

(self)
1755203036 NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA

NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA

(self)
1755203036 NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
ss4043412857 NC_000002.12:69344186:AAAAAAAAAAAA: NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
1755203036 NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss4043412856 NC_000002.12:69344186:AAAAAAAAAAA: NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
1755203036 NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
1755203036 NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss4043412855 NC_000002.12:69344186:AAAAAAAAA: NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
1755203036 NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss4043412854, ss5930853557 NC_000002.12:69344186:AAAAAAAA: NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
1755203036 NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss4043412853, ss5248479307 NC_000002.12:69344186:AAAAAAA: NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
1755203036 NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4043412852 NC_000002.12:69344186:AAAAAA: NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
1755203036 NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss4043412851 NC_000002.12:69344186:AAAAA: NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
1755203036 NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss4043412850 NC_000002.12:69344186:AAAA: NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
1755203036 NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss2989698941 NC_000002.11:69571318:AAA: NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss5248479306, ss5448644374 NC_000002.12:69344186:AAA: NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
1755203036 NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss82092321, ss83046098 NC_000002.9:69482990:AA: NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
8690644, 674002, ss1368293626, ss1575432242, ss3827040717, ss5151910193, ss5820260159 NC_000002.11:69571318:AA: NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss3065746442, ss3801275013, ss4043412849, ss5248479302, ss5448644372, ss5680690872 NC_000002.12:69344186:AA: NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
1755203036 NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss3789474970, ss3794347910, ss5151910196 NC_000002.11:69571318:A: NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss4043412848, ss5248479305, ss5448644373, ss5680690876 NC_000002.12:69344186:A: NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
1755203036 NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss41815028 NT_022184.15:48393226:A: NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss41637405 NT_022184.15:48393227:A: NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss5151910194 NC_000002.11:69571318::A NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4043412822, ss5248479303, ss5680690874 NC_000002.12:69344186::A NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
1755203036 NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5151910195 NC_000002.11:69571318::AA NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4043412823, ss5248479304, ss5680690875 NC_000002.12:69344186::AA NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
1755203036 NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4043412824 NC_000002.12:69344186::AAA NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5820260157 NC_000002.11:69571318::AAAA NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

ss4043412825 NC_000002.12:69344186::AAAA NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5820260158 NC_000002.11:69571318::AAAAA NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

ss4043412826 NC_000002.12:69344186::AAAAA NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4043412827 NC_000002.12:69344186::AAAAAA NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4043412828 NC_000002.12:69344186::AAAAAAA NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4043412829 NC_000002.12:69344186::AAAAAAAA NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4043412830 NC_000002.12:69344186::AAAAAAAAAAA NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4043412831 NC_000002.12:69344186::AAAAAAAAAAAA NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4043412832 NC_000002.12:69344186::AAAAAAAAAAA…

NC_000002.12:69344186::AAAAAAAAAAAAA

NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4043412833 NC_000002.12:69344186::AAAAAAAAAAA…

NC_000002.12:69344186::AAAAAAAAAAAAAA

NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4043412834 NC_000002.12:69344186::AAAAAAAAAAA…

NC_000002.12:69344186::AAAAAAAAAAAAAAA

NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4043412835 NC_000002.12:69344186::AAAAAAAAAAA…

NC_000002.12:69344186::AAAAAAAAAAAAAAAA

NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
1755203036 NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4043412836 NC_000002.12:69344186::AAAAAAAAAAA…

NC_000002.12:69344186::AAAAAAAAAAAAAAAAA

NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4043412837, ss5448644371 NC_000002.12:69344186::AAAAAAAAAAA…

NC_000002.12:69344186::AAAAAAAAAAAAAAAAAA

NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
1755203036 NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4043412838 NC_000002.12:69344186::AAAAAAAAAAA…

NC_000002.12:69344186::AAAAAAAAAAAAAAAAAAA

NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4043412839 NC_000002.12:69344186::AAAAAAAAAAA…

NC_000002.12:69344186::AAAAAAAAAAAAAAAAAAAA

NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4043412840 NC_000002.12:69344186::AAAAAAAAAAA…

NC_000002.12:69344186::AAAAAAAAAAAAAAAAAAAAAAA

NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4043412841 NC_000002.12:69344186::AAAAAAAAAAA…

NC_000002.12:69344186::AAAAAAAAAAAAAAAAAAAAAAAA

NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4043412842 NC_000002.12:69344186::AAAAAAAAAAA…

NC_000002.12:69344186::AAAAAAAAAAAAAAAAAAAAAAAAA

NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4043412843 NC_000002.12:69344186::AAAAAAAAAAA…

NC_000002.12:69344186::AAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4043412844 NC_000002.12:69344186::AAAAAAAAAAA…

NC_000002.12:69344186::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4043412845 NC_000002.12:69344186::AAAAAAAAAAA…

NC_000002.12:69344186::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4043412846 NC_000002.12:69344186::AAAAAAAAAAA…

NC_000002.12:69344186::AAAAAAAAAAAAAAAAAAAAAAACAAAA

NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss3311213697 NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAA:

NC_000002.12:69344186:AAAAAAAAAAAA…

NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

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 rs10602884

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