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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.

rs11478013

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr20:35351392-35351408 (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)6 / del(A)5 / del(A)4 / delA…

del(A)6 / del(A)5 / del(A)4 / delAAA / delAA / delA / dupA / dupAA / dup(A)6 / dup(A)7

Variation Type
Indel Insertion and Deletion
Frequency
delAA=0.2259 (1489/6592, ALFA)
(A)17=0.4491 (2249/5008, 1000G)
delAA=0.181 (105/580, NorthernSweden)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
UQCC1 : 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 6592 AAAAAAAAAAAAAAAAA=0.7691 AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0002, AAAAAAAAAAAAAAA=0.2259, AAAAAAAAAAAAAAAAAA=0.0012, AAAAAAAAAAAAAAAA=0.0029, AAAAAAAAAAAAAAAAAAAAAAAA=0.0008, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000 0.654824 0.10781 0.237366 32
European Sub 5588 AAAAAAAAAAAAAAAAA=0.7282 AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0002, AAAAAAAAAAAAAAA=0.2659, AAAAAAAAAAAAAAAAAA=0.0014, AAAAAAAAAAAAAAAA=0.0034, AAAAAAAAAAAAAAAAAAAAAAAA=0.0009, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000 0.592834 0.127036 0.28013 32
African Sub 786 AAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 26 AAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 760 AAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 10 AAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
East Asian Sub 6 AAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Other Asian Sub 4 AAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 26 AAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 58 AAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
South Asian Sub 26 AAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 98 AAAAAAAAAAAAAAAAA=0.97 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.03, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00 0.959184 0.020408 0.020408 12


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 6592 (A)17=0.7691 del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0002, delAA=0.2259, delA=0.0029, dupA=0.0012, dupAA=0.0000, dup(A)6=0.0000, dup(A)7=0.0008
Allele Frequency Aggregator European Sub 5588 (A)17=0.7282 del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0002, delAA=0.2659, delA=0.0034, dupA=0.0014, dupAA=0.0000, dup(A)6=0.0000, dup(A)7=0.0009
Allele Frequency Aggregator African Sub 786 (A)17=1.000 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)6=0.000, dup(A)7=0.000
Allele Frequency Aggregator Other Sub 98 (A)17=0.97 del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.03, delA=0.00, dupA=0.00, dupAA=0.00, dup(A)6=0.00, dup(A)7=0.00
Allele Frequency Aggregator Latin American 2 Sub 58 (A)17=1.00 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)6=0.00, dup(A)7=0.00
Allele Frequency Aggregator Latin American 1 Sub 26 (A)17=1.00 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)6=0.00, dup(A)7=0.00
Allele Frequency Aggregator South Asian Sub 26 (A)17=1.00 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)6=0.00, dup(A)7=0.00
Allele Frequency Aggregator Asian Sub 10 (A)17=1.0 del(A)5=0.0, del(A)4=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dup(A)6=0.0, dup(A)7=0.0
1000Genomes Global Study-wide 5008 (A)17=0.4491 delAA=0.5509
1000Genomes African Sub 1322 (A)17=0.6195 delAA=0.3805
1000Genomes East Asian Sub 1008 (A)17=0.2907 delAA=0.7093
1000Genomes Europe Sub 1006 (A)17=0.3767 delAA=0.6233
1000Genomes South Asian Sub 978 (A)17=0.577 delAA=0.423
1000Genomes American Sub 694 (A)17=0.280 delAA=0.720
Northern Sweden ACPOP Study-wide 580 (A)17=0.819 delAA=0.181
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 20 NC_000020.11:g.35351403_35351408del
GRCh38.p14 chr 20 NC_000020.11:g.35351404_35351408del
GRCh38.p14 chr 20 NC_000020.11:g.35351405_35351408del
GRCh38.p14 chr 20 NC_000020.11:g.35351406_35351408del
GRCh38.p14 chr 20 NC_000020.11:g.35351407_35351408del
GRCh38.p14 chr 20 NC_000020.11:g.35351408del
GRCh38.p14 chr 20 NC_000020.11:g.35351408dup
GRCh38.p14 chr 20 NC_000020.11:g.35351407_35351408dup
GRCh38.p14 chr 20 NC_000020.11:g.35351403_35351408dup
GRCh38.p14 chr 20 NC_000020.11:g.35351402_35351408dup
GRCh37.p13 chr 20 NC_000020.10:g.33939206_33939211del
GRCh37.p13 chr 20 NC_000020.10:g.33939207_33939211del
GRCh37.p13 chr 20 NC_000020.10:g.33939208_33939211del
GRCh37.p13 chr 20 NC_000020.10:g.33939209_33939211del
GRCh37.p13 chr 20 NC_000020.10:g.33939210_33939211del
GRCh37.p13 chr 20 NC_000020.10:g.33939211del
GRCh37.p13 chr 20 NC_000020.10:g.33939211dup
GRCh37.p13 chr 20 NC_000020.10:g.33939210_33939211dup
GRCh37.p13 chr 20 NC_000020.10:g.33939206_33939211dup
GRCh37.p13 chr 20 NC_000020.10:g.33939205_33939211dup
UQCC1 RefSeqGene NG_021421.1:g.65746_65751del
UQCC1 RefSeqGene NG_021421.1:g.65747_65751del
UQCC1 RefSeqGene NG_021421.1:g.65748_65751del
UQCC1 RefSeqGene NG_021421.1:g.65749_65751del
UQCC1 RefSeqGene NG_021421.1:g.65750_65751del
UQCC1 RefSeqGene NG_021421.1:g.65751del
UQCC1 RefSeqGene NG_021421.1:g.65751dup
UQCC1 RefSeqGene NG_021421.1:g.65750_65751dup
UQCC1 RefSeqGene NG_021421.1:g.65746_65751dup
UQCC1 RefSeqGene NG_021421.1:g.65745_65751dup
Gene: UQCC1, ubiquinol-cytochrome c reductase complex assembly factor 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
UQCC1 transcript variant 3 NM_001184977.2:c.261-4125…

NM_001184977.2:c.261-4125_261-4120del

N/A Intron Variant
UQCC1 transcript variant 1 NM_018244.5:c.465-4125_46…

NM_018244.5:c.465-4125_465-4120del

N/A Intron Variant
UQCC1 transcript variant 2 NM_199487.3:c.465-4125_46…

NM_199487.3:c.465-4125_465-4120del

N/A Intron Variant
UQCC1 transcript variant X1 XM_011528877.2:c.507-4125…

XM_011528877.2:c.507-4125_507-4120del

N/A Intron Variant
UQCC1 transcript variant X2 XM_011528878.3:c.369-4125…

XM_011528878.3:c.369-4125_369-4120del

N/A Intron Variant
UQCC1 transcript variant X4 XM_011528879.2:c.327-4125…

XM_011528879.2:c.327-4125_327-4120del

N/A Intron Variant
UQCC1 transcript variant X3 XM_011528880.3:c.327-4125…

XM_011528880.3:c.327-4125_327-4120del

N/A Intron Variant
UQCC1 transcript variant X5 XM_011528881.4:c.168-4125…

XM_011528881.4:c.168-4125_168-4120del

N/A Intron Variant
UQCC1 transcript variant X6 XM_047440254.1:c.63-4125_…

XM_047440254.1:c.63-4125_63-4120del

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)17= del(A)6 del(A)5 del(A)4 delAAA delAA delA dupA dupAA dup(A)6 dup(A)7
GRCh38.p14 chr 20 NC_000020.11:g.35351392_35351408= NC_000020.11:g.35351403_35351408del NC_000020.11:g.35351404_35351408del NC_000020.11:g.35351405_35351408del NC_000020.11:g.35351406_35351408del NC_000020.11:g.35351407_35351408del NC_000020.11:g.35351408del NC_000020.11:g.35351408dup NC_000020.11:g.35351407_35351408dup NC_000020.11:g.35351403_35351408dup NC_000020.11:g.35351402_35351408dup
GRCh37.p13 chr 20 NC_000020.10:g.33939195_33939211= NC_000020.10:g.33939206_33939211del NC_000020.10:g.33939207_33939211del NC_000020.10:g.33939208_33939211del NC_000020.10:g.33939209_33939211del NC_000020.10:g.33939210_33939211del NC_000020.10:g.33939211del NC_000020.10:g.33939211dup NC_000020.10:g.33939210_33939211dup NC_000020.10:g.33939206_33939211dup NC_000020.10:g.33939205_33939211dup
UQCC1 RefSeqGene NG_021421.1:g.65735_65751= NG_021421.1:g.65746_65751del NG_021421.1:g.65747_65751del NG_021421.1:g.65748_65751del NG_021421.1:g.65749_65751del NG_021421.1:g.65750_65751del NG_021421.1:g.65751del NG_021421.1:g.65751dup NG_021421.1:g.65750_65751dup NG_021421.1:g.65746_65751dup NG_021421.1:g.65745_65751dup
UQCC1 transcript variant 3 NM_001184977.1:c.261-4120= NM_001184977.1:c.261-4125_261-4120del NM_001184977.1:c.261-4124_261-4120del NM_001184977.1:c.261-4123_261-4120del NM_001184977.1:c.261-4122_261-4120del NM_001184977.1:c.261-4121_261-4120del NM_001184977.1:c.261-4120del NM_001184977.1:c.261-4120dup NM_001184977.1:c.261-4121_261-4120dup NM_001184977.1:c.261-4125_261-4120dup NM_001184977.1:c.261-4126_261-4120dup
UQCC1 transcript variant 3 NM_001184977.2:c.261-4120= NM_001184977.2:c.261-4125_261-4120del NM_001184977.2:c.261-4124_261-4120del NM_001184977.2:c.261-4123_261-4120del NM_001184977.2:c.261-4122_261-4120del NM_001184977.2:c.261-4121_261-4120del NM_001184977.2:c.261-4120del NM_001184977.2:c.261-4120dup NM_001184977.2:c.261-4121_261-4120dup NM_001184977.2:c.261-4125_261-4120dup NM_001184977.2:c.261-4126_261-4120dup
UQCC1 transcript variant 1 NM_018244.4:c.465-4120= NM_018244.4:c.465-4125_465-4120del NM_018244.4:c.465-4124_465-4120del NM_018244.4:c.465-4123_465-4120del NM_018244.4:c.465-4122_465-4120del NM_018244.4:c.465-4121_465-4120del NM_018244.4:c.465-4120del NM_018244.4:c.465-4120dup NM_018244.4:c.465-4121_465-4120dup NM_018244.4:c.465-4125_465-4120dup NM_018244.4:c.465-4126_465-4120dup
UQCC1 transcript variant 1 NM_018244.5:c.465-4120= NM_018244.5:c.465-4125_465-4120del NM_018244.5:c.465-4124_465-4120del NM_018244.5:c.465-4123_465-4120del NM_018244.5:c.465-4122_465-4120del NM_018244.5:c.465-4121_465-4120del NM_018244.5:c.465-4120del NM_018244.5:c.465-4120dup NM_018244.5:c.465-4121_465-4120dup NM_018244.5:c.465-4125_465-4120dup NM_018244.5:c.465-4126_465-4120dup
UQCC1 transcript variant 2 NM_199487.2:c.465-4120= NM_199487.2:c.465-4125_465-4120del NM_199487.2:c.465-4124_465-4120del NM_199487.2:c.465-4123_465-4120del NM_199487.2:c.465-4122_465-4120del NM_199487.2:c.465-4121_465-4120del NM_199487.2:c.465-4120del NM_199487.2:c.465-4120dup NM_199487.2:c.465-4121_465-4120dup NM_199487.2:c.465-4125_465-4120dup NM_199487.2:c.465-4126_465-4120dup
UQCC1 transcript variant 2 NM_199487.3:c.465-4120= NM_199487.3:c.465-4125_465-4120del NM_199487.3:c.465-4124_465-4120del NM_199487.3:c.465-4123_465-4120del NM_199487.3:c.465-4122_465-4120del NM_199487.3:c.465-4121_465-4120del NM_199487.3:c.465-4120del NM_199487.3:c.465-4120dup NM_199487.3:c.465-4121_465-4120dup NM_199487.3:c.465-4125_465-4120dup NM_199487.3:c.465-4126_465-4120dup
UQCC transcript variant X1 XM_005260440.1:c.507-4120= XM_005260440.1:c.507-4125_507-4120del XM_005260440.1:c.507-4124_507-4120del XM_005260440.1:c.507-4123_507-4120del XM_005260440.1:c.507-4122_507-4120del XM_005260440.1:c.507-4121_507-4120del XM_005260440.1:c.507-4120del XM_005260440.1:c.507-4120dup XM_005260440.1:c.507-4121_507-4120dup XM_005260440.1:c.507-4125_507-4120dup XM_005260440.1:c.507-4126_507-4120dup
UQCC transcript variant X2 XM_005260441.1:c.369-4120= XM_005260441.1:c.369-4125_369-4120del XM_005260441.1:c.369-4124_369-4120del XM_005260441.1:c.369-4123_369-4120del XM_005260441.1:c.369-4122_369-4120del XM_005260441.1:c.369-4121_369-4120del XM_005260441.1:c.369-4120del XM_005260441.1:c.369-4120dup XM_005260441.1:c.369-4121_369-4120dup XM_005260441.1:c.369-4125_369-4120dup XM_005260441.1:c.369-4126_369-4120dup
UQCC transcript variant X3 XM_005260442.1:c.129-4120= XM_005260442.1:c.129-4125_129-4120del XM_005260442.1:c.129-4124_129-4120del XM_005260442.1:c.129-4123_129-4120del XM_005260442.1:c.129-4122_129-4120del XM_005260442.1:c.129-4121_129-4120del XM_005260442.1:c.129-4120del XM_005260442.1:c.129-4120dup XM_005260442.1:c.129-4121_129-4120dup XM_005260442.1:c.129-4125_129-4120dup XM_005260442.1:c.129-4126_129-4120dup
UQCC transcript variant X4 XM_005260443.1:c.63-4120= XM_005260443.1:c.63-4125_63-4120del XM_005260443.1:c.63-4124_63-4120del XM_005260443.1:c.63-4123_63-4120del XM_005260443.1:c.63-4122_63-4120del XM_005260443.1:c.63-4121_63-4120del XM_005260443.1:c.63-4120del XM_005260443.1:c.63-4120dup XM_005260443.1:c.63-4121_63-4120dup XM_005260443.1:c.63-4125_63-4120dup XM_005260443.1:c.63-4126_63-4120dup
UQCC transcript variant X5 XM_005260444.1:c.220+32651= XM_005260444.1:c.220+32646_220+32651del XM_005260444.1:c.220+32647_220+32651del XM_005260444.1:c.220+32648_220+32651del XM_005260444.1:c.220+32649_220+32651del XM_005260444.1:c.220+32650_220+32651del XM_005260444.1:c.220+32651del XM_005260444.1:c.220+32651dup XM_005260444.1:c.220+32650_220+32651dup XM_005260444.1:c.220+32646_220+32651dup XM_005260444.1:c.220+32645_220+32651dup
UQCC1 transcript variant X1 XM_011528877.2:c.507-4120= XM_011528877.2:c.507-4125_507-4120del XM_011528877.2:c.507-4124_507-4120del XM_011528877.2:c.507-4123_507-4120del XM_011528877.2:c.507-4122_507-4120del XM_011528877.2:c.507-4121_507-4120del XM_011528877.2:c.507-4120del XM_011528877.2:c.507-4120dup XM_011528877.2:c.507-4121_507-4120dup XM_011528877.2:c.507-4125_507-4120dup XM_011528877.2:c.507-4126_507-4120dup
UQCC1 transcript variant X2 XM_011528878.3:c.369-4120= XM_011528878.3:c.369-4125_369-4120del XM_011528878.3:c.369-4124_369-4120del XM_011528878.3:c.369-4123_369-4120del XM_011528878.3:c.369-4122_369-4120del XM_011528878.3:c.369-4121_369-4120del XM_011528878.3:c.369-4120del XM_011528878.3:c.369-4120dup XM_011528878.3:c.369-4121_369-4120dup XM_011528878.3:c.369-4125_369-4120dup XM_011528878.3:c.369-4126_369-4120dup
UQCC1 transcript variant X4 XM_011528879.2:c.327-4120= XM_011528879.2:c.327-4125_327-4120del XM_011528879.2:c.327-4124_327-4120del XM_011528879.2:c.327-4123_327-4120del XM_011528879.2:c.327-4122_327-4120del XM_011528879.2:c.327-4121_327-4120del XM_011528879.2:c.327-4120del XM_011528879.2:c.327-4120dup XM_011528879.2:c.327-4121_327-4120dup XM_011528879.2:c.327-4125_327-4120dup XM_011528879.2:c.327-4126_327-4120dup
UQCC1 transcript variant X3 XM_011528880.3:c.327-4120= XM_011528880.3:c.327-4125_327-4120del XM_011528880.3:c.327-4124_327-4120del XM_011528880.3:c.327-4123_327-4120del XM_011528880.3:c.327-4122_327-4120del XM_011528880.3:c.327-4121_327-4120del XM_011528880.3:c.327-4120del XM_011528880.3:c.327-4120dup XM_011528880.3:c.327-4121_327-4120dup XM_011528880.3:c.327-4125_327-4120dup XM_011528880.3:c.327-4126_327-4120dup
UQCC1 transcript variant X5 XM_011528881.4:c.168-4120= XM_011528881.4:c.168-4125_168-4120del XM_011528881.4:c.168-4124_168-4120del XM_011528881.4:c.168-4123_168-4120del XM_011528881.4:c.168-4122_168-4120del XM_011528881.4:c.168-4121_168-4120del XM_011528881.4:c.168-4120del XM_011528881.4:c.168-4120dup XM_011528881.4:c.168-4121_168-4120dup XM_011528881.4:c.168-4125_168-4120dup XM_011528881.4:c.168-4126_168-4120dup
UQCC1 transcript variant X6 XM_047440254.1:c.63-4120= XM_047440254.1:c.63-4125_63-4120del XM_047440254.1:c.63-4124_63-4120del XM_047440254.1:c.63-4123_63-4120del XM_047440254.1:c.63-4122_63-4120del XM_047440254.1:c.63-4121_63-4120del XM_047440254.1:c.63-4120del XM_047440254.1:c.63-4120dup XM_047440254.1:c.63-4121_63-4120dup XM_047440254.1:c.63-4125_63-4120dup XM_047440254.1:c.63-4126_63-4120dup
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#.

55 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss80338066 Dec 15, 2007 (130)
2 HUMANGENOME_JCVI ss95739544 Mar 15, 2016 (147)
3 BCMHGSC_JDW ss103650152 Mar 15, 2016 (147)
4 GMI ss288536336 May 09, 2011 (137)
5 GMI ss289409902 May 04, 2012 (138)
6 SSMP ss664472476 Apr 01, 2015 (144)
7 1000GENOMES ss1378476608 Aug 21, 2014 (142)
8 EVA_UK10K_ALSPAC ss1709347623 Apr 01, 2015 (144)
9 EVA_UK10K_TWINSUK ss1709348099 Apr 01, 2015 (144)
10 EVA_UK10K_TWINSUK ss1710812236 Apr 01, 2015 (144)
11 EVA_UK10K_ALSPAC ss1710812239 Apr 01, 2015 (144)
12 SYSTEMSBIOZJU ss2629435690 Nov 08, 2017 (151)
13 SWEGEN ss3018138321 Nov 08, 2017 (151)
14 MCHAISSO ss3063997143 Nov 08, 2017 (151)
15 MCHAISSO ss3064854620 Nov 08, 2017 (151)
16 MCHAISSO ss3065817135 Nov 08, 2017 (151)
17 URBANLAB ss3651015694 Oct 12, 2018 (152)
18 EVA_DECODE ss3706888649 Jul 13, 2019 (153)
19 EVA_DECODE ss3706888650 Jul 13, 2019 (153)
20 EVA_DECODE ss3706888651 Jul 13, 2019 (153)
21 ACPOP ss3743369853 Jul 13, 2019 (153)
22 PACBIO ss3793534163 Jul 13, 2019 (153)
23 PACBIO ss3798421064 Jul 13, 2019 (153)
24 KHV_HUMAN_GENOMES ss3821773079 Jul 13, 2019 (153)
25 EVA ss3835658909 Apr 27, 2020 (154)
26 EVA ss3841455895 Apr 27, 2020 (154)
27 EVA ss3846968378 Apr 27, 2020 (154)
28 GNOMAD ss4352887694 Apr 27, 2021 (155)
29 GNOMAD ss4352887695 Apr 27, 2021 (155)
30 GNOMAD ss4352887696 Apr 27, 2021 (155)
31 GNOMAD ss4352887697 Apr 27, 2021 (155)
32 GNOMAD ss4352887698 Apr 27, 2021 (155)
33 GNOMAD ss4352887699 Apr 27, 2021 (155)
34 GNOMAD ss4352887700 Apr 27, 2021 (155)
35 GNOMAD ss4352887701 Apr 27, 2021 (155)
36 TOMMO_GENOMICS ss5229512165 Apr 27, 2021 (155)
37 TOMMO_GENOMICS ss5229512166 Apr 27, 2021 (155)
38 TOMMO_GENOMICS ss5229512167 Apr 27, 2021 (155)
39 TOMMO_GENOMICS ss5229512168 Apr 27, 2021 (155)
40 1000G_HIGH_COVERAGE ss5308695931 Oct 16, 2022 (156)
41 1000G_HIGH_COVERAGE ss5308695932 Oct 16, 2022 (156)
42 1000G_HIGH_COVERAGE ss5308695933 Oct 16, 2022 (156)
43 1000G_HIGH_COVERAGE ss5308695934 Oct 16, 2022 (156)
44 HUGCELL_USP ss5500983380 Oct 16, 2022 (156)
45 HUGCELL_USP ss5500983381 Oct 16, 2022 (156)
46 HUGCELL_USP ss5500983382 Oct 16, 2022 (156)
47 HUGCELL_USP ss5500983383 Oct 16, 2022 (156)
48 EVA ss5512208328 Oct 16, 2022 (156)
49 TOMMO_GENOMICS ss5789269993 Oct 16, 2022 (156)
50 TOMMO_GENOMICS ss5789269994 Oct 16, 2022 (156)
51 TOMMO_GENOMICS ss5789269995 Oct 16, 2022 (156)
52 TOMMO_GENOMICS ss5789269996 Oct 16, 2022 (156)
53 EVA ss5845654994 Oct 16, 2022 (156)
54 EVA ss5845654995 Oct 16, 2022 (156)
55 EVA ss5853129230 Oct 16, 2022 (156)
56 1000Genomes NC_000020.10 - 33939195 Oct 12, 2018 (152)
57 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 43238367 (NC_000020.10:33939194:AAA: 290/3854)
Row 43238368 (NC_000020.10:33939195:A: 2874/3854)

- Oct 12, 2018 (152)
58 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 43238367 (NC_000020.10:33939194:AAA: 290/3854)
Row 43238368 (NC_000020.10:33939195:A: 2874/3854)

- Oct 12, 2018 (152)
59 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 551003370 (NC_000020.11:35351391::A 2168/110068)
Row 551003371 (NC_000020.11:35351391::AA 7/110160)
Row 551003372 (NC_000020.11:35351391::AAAAAA 3/110170)...

- Apr 27, 2021 (155)
60 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 551003370 (NC_000020.11:35351391::A 2168/110068)
Row 551003371 (NC_000020.11:35351391::AA 7/110160)
Row 551003372 (NC_000020.11:35351391::AAAAAA 3/110170)...

- Apr 27, 2021 (155)
61 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 551003370 (NC_000020.11:35351391::A 2168/110068)
Row 551003371 (NC_000020.11:35351391::AA 7/110160)
Row 551003372 (NC_000020.11:35351391::AAAAAA 3/110170)...

- Apr 27, 2021 (155)
62 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 551003370 (NC_000020.11:35351391::A 2168/110068)
Row 551003371 (NC_000020.11:35351391::AA 7/110160)
Row 551003372 (NC_000020.11:35351391::AAAAAA 3/110170)...

- Apr 27, 2021 (155)
63 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 551003370 (NC_000020.11:35351391::A 2168/110068)
Row 551003371 (NC_000020.11:35351391::AA 7/110160)
Row 551003372 (NC_000020.11:35351391::AAAAAA 3/110170)...

- Apr 27, 2021 (155)
64 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 551003370 (NC_000020.11:35351391::A 2168/110068)
Row 551003371 (NC_000020.11:35351391::AA 7/110160)
Row 551003372 (NC_000020.11:35351391::AAAAAA 3/110170)...

- Apr 27, 2021 (155)
65 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 551003370 (NC_000020.11:35351391::A 2168/110068)
Row 551003371 (NC_000020.11:35351391::AA 7/110160)
Row 551003372 (NC_000020.11:35351391::AAAAAA 3/110170)...

- Apr 27, 2021 (155)
66 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 551003370 (NC_000020.11:35351391::A 2168/110068)
Row 551003371 (NC_000020.11:35351391::AA 7/110160)
Row 551003372 (NC_000020.11:35351391::AAAAAA 3/110170)...

- Apr 27, 2021 (155)
67 Northern Sweden NC_000020.10 - 33939195 Jul 13, 2019 (153)
68 8.3KJPN

Submission ignored due to conflicting rows:
Row 87481472 (NC_000020.10:33939194:AA: 8509/16736)
Row 87481473 (NC_000020.10:33939194:A: 3601/16736)
Row 87481474 (NC_000020.10:33939194:AAA: 52/16736)...

- Apr 27, 2021 (155)
69 8.3KJPN

Submission ignored due to conflicting rows:
Row 87481472 (NC_000020.10:33939194:AA: 8509/16736)
Row 87481473 (NC_000020.10:33939194:A: 3601/16736)
Row 87481474 (NC_000020.10:33939194:AAA: 52/16736)...

- Apr 27, 2021 (155)
70 8.3KJPN

Submission ignored due to conflicting rows:
Row 87481472 (NC_000020.10:33939194:AA: 8509/16736)
Row 87481473 (NC_000020.10:33939194:A: 3601/16736)
Row 87481474 (NC_000020.10:33939194:AAA: 52/16736)...

- Apr 27, 2021 (155)
71 8.3KJPN

Submission ignored due to conflicting rows:
Row 87481472 (NC_000020.10:33939194:AA: 8509/16736)
Row 87481473 (NC_000020.10:33939194:A: 3601/16736)
Row 87481474 (NC_000020.10:33939194:AAA: 52/16736)...

- Apr 27, 2021 (155)
72 14KJPN

Submission ignored due to conflicting rows:
Row 123107097 (NC_000020.11:35351391:AA: 14688/28258)
Row 123107098 (NC_000020.11:35351391:A: 6367/28258)
Row 123107099 (NC_000020.11:35351391::A 247/28258)...

- Oct 16, 2022 (156)
73 14KJPN

Submission ignored due to conflicting rows:
Row 123107097 (NC_000020.11:35351391:AA: 14688/28258)
Row 123107098 (NC_000020.11:35351391:A: 6367/28258)
Row 123107099 (NC_000020.11:35351391::A 247/28258)...

- Oct 16, 2022 (156)
74 14KJPN

Submission ignored due to conflicting rows:
Row 123107097 (NC_000020.11:35351391:AA: 14688/28258)
Row 123107098 (NC_000020.11:35351391:A: 6367/28258)
Row 123107099 (NC_000020.11:35351391::A 247/28258)...

- Oct 16, 2022 (156)
75 14KJPN

Submission ignored due to conflicting rows:
Row 123107097 (NC_000020.11:35351391:AA: 14688/28258)
Row 123107098 (NC_000020.11:35351391:A: 6367/28258)
Row 123107099 (NC_000020.11:35351391::A 247/28258)...

- Oct 16, 2022 (156)
76 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 43238367 (NC_000020.10:33939194:AAA: 284/3708)
Row 43238368 (NC_000020.10:33939195:A: 2708/3708)

- Oct 12, 2018 (152)
77 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 43238367 (NC_000020.10:33939194:AAA: 284/3708)
Row 43238368 (NC_000020.10:33939195:A: 2708/3708)

- Oct 12, 2018 (152)
78 ALFA NC_000020.11 - 35351392 Apr 27, 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)
rs142567128 May 11, 2012 (137)
rs200679843 Apr 25, 2013 (138)
rs58379664 May 24, 2008 (130)
rs71184067 Oct 26, 2010 (133)
rs80041018 Oct 26, 2010 (133)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4352887701 NC_000020.11:35351391:AAAAAA: NC_000020.11:35351391:AAAAAAAAAAAA…

NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
7745166199 NC_000020.11:35351391:AAAAAAAAAAAA…

NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000020.11:35351391:AAAAAAAAAAAA…

NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss4352887700 NC_000020.11:35351391:AAAA: NC_000020.11:35351391:AAAAAAAAAAAA…

NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
7745166199 NC_000020.11:35351391:AAAAAAAAAAAA…

NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000020.11:35351391:AAAAAAAAAAAA…

NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss103650152 NT_011362.10:4135299:AAAA: NC_000020.11:35351391:AAAAAAAAAAAA…

NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss1709347623, ss1709348099, ss5229512167, ss5845654995 NC_000020.10:33939194:AAA: NC_000020.11:35351391:AAAAAAAAAAAA…

NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss3706888651, ss4352887699, ss5308695934, ss5500983380, ss5789269996 NC_000020.11:35351391:AAA: NC_000020.11:35351391:AAAAAAAAAAAA…

NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
7745166199 NC_000020.11:35351391:AAAAAAAAAAAA…

NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000020.11:35351391:AAAAAAAAAAAA…

NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss289409902 NC_000020.9:33402608:AA: NC_000020.11:35351391:AAAAAAAAAAAA…

NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
78112613, 16654718, ss664472476, ss1378476608, ss2629435690, ss3018138321, ss3743369853, ss3793534163, ss3798421064, ss3835658909, ss3841455895, ss5229512165, ss5845654994 NC_000020.10:33939194:AA: NC_000020.11:35351391:AAAAAAAAAAAA…

NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss1710812236, ss1710812239 NC_000020.10:33939195:AA: NC_000020.11:35351391:AAAAAAAAAAAA…

NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3063997143, ss3064854620, ss3065817135, ss3651015694, ss3821773079, ss3846968378, ss4352887698, ss5308695931, ss5500983381, ss5789269993, ss5853129230 NC_000020.11:35351391:AA: NC_000020.11:35351391:AAAAAAAAAAAA…

NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
7745166199 NC_000020.11:35351391:AAAAAAAAAAAA…

NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000020.11:35351391:AAAAAAAAAAAA…

NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3706888650 NC_000020.11:35351392:AA: NC_000020.11:35351391:AAAAAAAAAAAA…

NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss288536336 NT_011362.10:4135286:AA: NC_000020.11:35351391:AAAAAAAAAAAA…

NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss95739544 NT_011362.10:4135301:AA: NC_000020.11:35351391:AAAAAAAAAAAA…

NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss80338066 NC_000020.9:33402624:A: NC_000020.11:35351391:AAAAAAAAAAAA…

NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss5229512166 NC_000020.10:33939194:A: NC_000020.11:35351391:AAAAAAAAAAAA…

NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
NC_000020.10:33939195:A: NC_000020.11:35351391:AAAAAAAAAAAA…

NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4352887697, ss5308695932, ss5500983382, ss5789269994 NC_000020.11:35351391:A: NC_000020.11:35351391:AAAAAAAAAAAA…

NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
7745166199 NC_000020.11:35351391:AAAAAAAAAAAA…

NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000020.11:35351391:AAAAAAAAAAAA…

NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3706888649 NC_000020.11:35351393:A: NC_000020.11:35351391:AAAAAAAAAAAA…

NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss5229512168 NC_000020.10:33939194::A NC_000020.11:35351391:AAAAAAAAAAAA…

NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss4352887694, ss5308695933, ss5500983383, ss5789269995 NC_000020.11:35351391::A NC_000020.11:35351391:AAAAAAAAAAAA…

NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
7745166199 NC_000020.11:35351391:AAAAAAAAAAAA…

NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000020.11:35351391:AAAAAAAAAAAA…

NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss5512208328 NC_000020.10:33939194::AA NC_000020.11:35351391:AAAAAAAAAAAA…

NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

ss4352887695 NC_000020.11:35351391::AA NC_000020.11:35351391:AAAAAAAAAAAA…

NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
7745166199 NC_000020.11:35351391:AAAAAAAAAAAA…

NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000020.11:35351391:AAAAAAAAAAAA…

NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss4352887696 NC_000020.11:35351391::AAAAAA NC_000020.11:35351391:AAAAAAAAAAAA…

NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
7745166199 NC_000020.11:35351391:AAAAAAAAAAAA…

NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

NC_000020.11:35351391:AAAAAAAAAAAA…

NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
7745166199 NC_000020.11:35351391:AAAAAAAAAAAA…

NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

NC_000020.11:35351391:AAAAAAAAAAAA…

NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
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 rs11478013

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