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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs113317262

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:41769190 (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
C>A / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000698 (167/239104, GnomAD_exome)
T=0.000257 (36/140248, GnomAD)
T=0.000609 (72/118294, ExAC) (+ 5 more)
T=0.00118 (33/27864, ALFA)
T=0.00031 (4/13006, GO-ESP)
T=0.0003 (2/6404, 1000G_30x)
T=0.0004 (2/5008, 1000G)
T=0.0002 (1/4480, Estonian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
JUP : Synonymous Variant
Publications
1 citation
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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 27864 C=0.99882 A=0.00000, T=0.00118
European Sub 20336 C=0.99907 A=0.00000, T=0.00093
African Sub 3540 C=0.9994 A=0.0000, T=0.0006
African Others Sub 122 C=1.000 A=0.000, T=0.000
African American Sub 3418 C=0.9994 A=0.0000, T=0.0006
Asian Sub 168 C=1.000 A=0.000, T=0.000
East Asian Sub 112 C=1.000 A=0.000, T=0.000
Other Asian Sub 56 C=1.00 A=0.00, T=0.00
Latin American 1 Sub 146 C=1.000 A=0.000, T=0.000
Latin American 2 Sub 610 C=1.000 A=0.000, T=0.000
South Asian Sub 98 C=1.00 A=0.00, T=0.00
Other Sub 2966 C=0.9960 A=0.0000, T=0.0040


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
gnomAD - Exomes Global Study-wide 239104 C=0.999302 T=0.000698
gnomAD - Exomes European Sub 123740 C=0.999814 T=0.000186
gnomAD - Exomes Asian Sub 48814 C=0.99965 T=0.00035
gnomAD - Exomes American Sub 34502 C=0.99991 T=0.00009
gnomAD - Exomes African Sub 15972 C=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10046 C=0.98825 T=0.01175
gnomAD - Exomes Other Sub 6030 C=0.9990 T=0.0010
gnomAD - Genomes Global Study-wide 140248 C=0.999743 T=0.000257
gnomAD - Genomes European Sub 75932 C=0.99989 T=0.00011
gnomAD - Genomes African Sub 42046 C=1.00000 T=0.00000
gnomAD - Genomes American Sub 13662 C=0.99993 T=0.00007
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.9922 T=0.0078
gnomAD - Genomes East Asian Sub 3134 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2152 C=0.9995 T=0.0005
ExAC Global Study-wide 118294 C=0.999391 T=0.000609
ExAC Europe Sub 71302 C=0.99917 T=0.00083
ExAC Asian Sub 24874 C=0.99952 T=0.00048
ExAC American Sub 11432 C=1.00000 T=0.00000
ExAC African Sub 9820 C=1.0000 T=0.0000
ExAC Other Sub 866 C=0.999 T=0.001
Allele Frequency Aggregator Total Global 27864 C=0.99882 A=0.00000, T=0.00118
Allele Frequency Aggregator European Sub 20336 C=0.99907 A=0.00000, T=0.00093
Allele Frequency Aggregator African Sub 3540 C=0.9994 A=0.0000, T=0.0006
Allele Frequency Aggregator Other Sub 2966 C=0.9960 A=0.0000, T=0.0040
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 168 C=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 A=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 A=0.00, T=0.00
GO Exome Sequencing Project Global Study-wide 13006 C=0.99969 T=0.00031
GO Exome Sequencing Project European American Sub 8600 C=0.9995 T=0.0005
GO Exome Sequencing Project African American Sub 4406 C=1.0000 T=0.0000
1000Genomes_30x Global Study-wide 6404 C=0.9997 T=0.0003
1000Genomes_30x African Sub 1786 C=1.0000 T=0.0000
1000Genomes_30x Europe Sub 1266 C=0.9992 T=0.0008
1000Genomes_30x South Asian Sub 1202 C=0.9992 T=0.0008
1000Genomes_30x East Asian Sub 1170 C=1.0000 T=0.0000
1000Genomes_30x American Sub 980 C=1.000 T=0.000
1000Genomes Global Study-wide 5008 C=0.9996 T=0.0004
1000Genomes African Sub 1322 C=1.0000 T=0.0000
1000Genomes East Asian Sub 1008 C=1.0000 T=0.0000
1000Genomes Europe Sub 1006 C=0.9990 T=0.0010
1000Genomes South Asian Sub 978 C=0.999 T=0.001
1000Genomes American Sub 694 C=1.000 T=0.000
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.9998 T=0.0002
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 17 NC_000017.11:g.41769190C>A
GRCh38.p14 chr 17 NC_000017.11:g.41769190C>T
GRCh37.p13 chr 17 NC_000017.10:g.39925442C>A
GRCh37.p13 chr 17 NC_000017.10:g.39925442C>T
JUP RefSeqGene (LRG_401) NG_009090.2:g.22523G>T
JUP RefSeqGene (LRG_401) NG_009090.2:g.22523G>A
GRCh37.p13 chr 17 fix patch HG185_PATCH NW_003571052.1:g.55832C>A
GRCh37.p13 chr 17 fix patch HG185_PATCH NW_003571052.1:g.55832C>T
Gene: JUP, junction plakoglobin (minus strand)
Molecule type Change Amino acid[Codon] SO Term
JUP transcript variant 1 NM_002230.4:c.486G>T A [GCG] > A [GCT] Coding Sequence Variant
junction plakoglobin NP_002221.1:p.Ala162= A (Ala) > A (Ala) Synonymous Variant
JUP transcript variant 1 NM_002230.4:c.486G>A A [GCG] > A [GCA] Coding Sequence Variant
junction plakoglobin NP_002221.1:p.Ala162= A (Ala) > A (Ala) Synonymous Variant
JUP transcript variant 6 NM_001352776.2:c.486G>T A [GCG] > A [GCT] Coding Sequence Variant
junction plakoglobin NP_001339705.1:p.Ala162= A (Ala) > A (Ala) Synonymous Variant
JUP transcript variant 6 NM_001352776.2:c.486G>A A [GCG] > A [GCA] Coding Sequence Variant
junction plakoglobin NP_001339705.1:p.Ala162= A (Ala) > A (Ala) Synonymous Variant
JUP transcript variant 3 NM_001352773.2:c.486G>T A [GCG] > A [GCT] Coding Sequence Variant
junction plakoglobin NP_001339702.1:p.Ala162= A (Ala) > A (Ala) Synonymous Variant
JUP transcript variant 3 NM_001352773.2:c.486G>A A [GCG] > A [GCA] Coding Sequence Variant
junction plakoglobin NP_001339702.1:p.Ala162= A (Ala) > A (Ala) Synonymous Variant
JUP transcript variant 2 NM_021991.4:c.486G>T A [GCG] > A [GCT] Coding Sequence Variant
junction plakoglobin NP_068831.1:p.Ala162= A (Ala) > A (Ala) Synonymous Variant
JUP transcript variant 2 NM_021991.4:c.486G>A A [GCG] > A [GCA] Coding Sequence Variant
junction plakoglobin NP_068831.1:p.Ala162= A (Ala) > A (Ala) Synonymous Variant
JUP transcript variant 5 NM_001352775.2:c.486G>T A [GCG] > A [GCT] Coding Sequence Variant
junction plakoglobin NP_001339704.1:p.Ala162= A (Ala) > A (Ala) Synonymous Variant
JUP transcript variant 5 NM_001352775.2:c.486G>A A [GCG] > A [GCA] Coding Sequence Variant
junction plakoglobin NP_001339704.1:p.Ala162= A (Ala) > A (Ala) Synonymous Variant
JUP transcript variant 4 NM_001352774.2:c.486G>T A [GCG] > A [GCT] Coding Sequence Variant
junction plakoglobin NP_001339703.1:p.Ala162= A (Ala) > A (Ala) Synonymous Variant
JUP transcript variant 4 NM_001352774.2:c.486G>A A [GCG] > A [GCA] Coding Sequence Variant
junction plakoglobin NP_001339703.1:p.Ala162= A (Ala) > A (Ala) Synonymous Variant
JUP transcript variant 7 NM_001352777.2:c.486G>T A [GCG] > A [GCT] Coding Sequence Variant
junction plakoglobin NP_001339706.1:p.Ala162= A (Ala) > A (Ala) Synonymous Variant
JUP transcript variant 7 NM_001352777.2:c.486G>A A [GCG] > A [GCA] Coding Sequence Variant
junction plakoglobin NP_001339706.1:p.Ala162= A (Ala) > A (Ala) Synonymous Variant
JUP transcript variant X1 XM_047435934.1:c.537G>T A [GCG] > A [GCT] Coding Sequence Variant
junction plakoglobin isoform X1 XP_047291890.1:p.Ala179= A (Ala) > A (Ala) Synonymous Variant
JUP transcript variant X1 XM_047435934.1:c.537G>A A [GCG] > A [GCA] Coding Sequence Variant
junction plakoglobin isoform X1 XP_047291890.1:p.Ala179= A (Ala) > A (Ala) Synonymous Variant
JUP transcript variant X8 XM_047435935.1:c.537G>T A [GCG] > A [GCT] Coding Sequence Variant
junction plakoglobin isoform X1 XP_047291891.1:p.Ala179= A (Ala) > A (Ala) Synonymous Variant
JUP transcript variant X8 XM_047435935.1:c.537G>A A [GCG] > A [GCA] Coding Sequence Variant
junction plakoglobin isoform X1 XP_047291891.1:p.Ala179= A (Ala) > A (Ala) Synonymous Variant
JUP transcript variant X2 XM_047435937.1:c.537G>T A [GCG] > A [GCT] Coding Sequence Variant
junction plakoglobin isoform X1 XP_047291893.1:p.Ala179= A (Ala) > A (Ala) Synonymous Variant
JUP transcript variant X2 XM_047435937.1:c.537G>A A [GCG] > A [GCA] Coding Sequence Variant
junction plakoglobin isoform X1 XP_047291893.1:p.Ala179= A (Ala) > A (Ala) Synonymous Variant
JUP transcript variant X3 XM_006721874.4:c.486G>T A [GCG] > A [GCT] Coding Sequence Variant
junction plakoglobin isoform X2 XP_006721937.1:p.Ala162= A (Ala) > A (Ala) Synonymous Variant
JUP transcript variant X3 XM_006721874.4:c.486G>A A [GCG] > A [GCA] Coding Sequence Variant
junction plakoglobin isoform X2 XP_006721937.1:p.Ala162= A (Ala) > A (Ala) Synonymous Variant
JUP transcript variant X6 XM_006721875.2:c.486G>T A [GCG] > A [GCT] Coding Sequence Variant
junction plakoglobin isoform X2 XP_006721938.1:p.Ala162= A (Ala) > A (Ala) Synonymous Variant
JUP transcript variant X6 XM_006721875.2:c.486G>A A [GCG] > A [GCA] Coding Sequence Variant
junction plakoglobin isoform X2 XP_006721938.1:p.Ala162= A (Ala) > A (Ala) Synonymous Variant
JUP transcript variant X4 XM_011524758.2:c.486G>T A [GCG] > A [GCT] Coding Sequence Variant
junction plakoglobin isoform X2 XP_011523060.1:p.Ala162= A (Ala) > A (Ala) Synonymous Variant
JUP transcript variant X4 XM_011524758.2:c.486G>A A [GCG] > A [GCA] Coding Sequence Variant
junction plakoglobin isoform X2 XP_011523060.1:p.Ala162= A (Ala) > A (Ala) Synonymous Variant
JUP transcript variant X9 XM_047435938.1:c.486G>T A [GCG] > A [GCT] Coding Sequence Variant
junction plakoglobin isoform X2 XP_047291894.1:p.Ala162= A (Ala) > A (Ala) Synonymous Variant
JUP transcript variant X9 XM_047435938.1:c.486G>A A [GCG] > A [GCA] Coding Sequence Variant
junction plakoglobin isoform X2 XP_047291894.1:p.Ala162= A (Ala) > A (Ala) Synonymous Variant
JUP transcript variant X10 XM_047435939.1:c.486G>T A [GCG] > A [GCT] Coding Sequence Variant
junction plakoglobin isoform X2 XP_047291895.1:p.Ala162= A (Ala) > A (Ala) Synonymous Variant
JUP transcript variant X10 XM_047435939.1:c.486G>A A [GCG] > A [GCA] Coding Sequence Variant
junction plakoglobin isoform X2 XP_047291895.1:p.Ala162= A (Ala) > A (Ala) Synonymous Variant
JUP transcript variant X7 XM_047435940.1:c.486G>T A [GCG] > A [GCT] Coding Sequence Variant
junction plakoglobin isoform X2 XP_047291896.1:p.Ala162= A (Ala) > A (Ala) Synonymous Variant
JUP transcript variant X7 XM_047435940.1:c.486G>A A [GCG] > A [GCA] Coding Sequence Variant
junction plakoglobin isoform X2 XP_047291896.1:p.Ala162= A (Ala) > A (Ala) Synonymous Variant
JUP transcript variant X11 XM_047435941.1:c.486G>T A [GCG] > A [GCT] Coding Sequence Variant
junction plakoglobin isoform X2 XP_047291897.1:p.Ala162= A (Ala) > A (Ala) Synonymous Variant
JUP transcript variant X11 XM_047435941.1:c.486G>A A [GCG] > A [GCA] Coding Sequence Variant
junction plakoglobin isoform X2 XP_047291897.1:p.Ala162= A (Ala) > A (Ala) Synonymous Variant
JUP transcript variant X12 XM_047435942.1:c.486G>T A [GCG] > A [GCT] Coding Sequence Variant
junction plakoglobin isoform X2 XP_047291898.1:p.Ala162= A (Ala) > A (Ala) Synonymous Variant
JUP transcript variant X12 XM_047435942.1:c.486G>A A [GCG] > A [GCA] Coding Sequence Variant
junction plakoglobin isoform X2 XP_047291898.1:p.Ala162= A (Ala) > A (Ala) Synonymous Variant
JUP transcript variant X5 XM_017024590.2:c.486G>T A [GCG] > A [GCT] Coding Sequence Variant
junction plakoglobin isoform X2 XP_016880079.1:p.Ala162= A (Ala) > A (Ala) Synonymous Variant
JUP transcript variant X5 XM_017024590.2:c.486G>A A [GCG] > A [GCA] Coding Sequence Variant
junction plakoglobin isoform X2 XP_016880079.1:p.Ala162= A (Ala) > A (Ala) Synonymous 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.

Allele: T (allele ID: 55017 )
ClinVar Accession Disease Names Clinical Significance
RCV000039083.9 not specified Benign-Likely-Benign
RCV000247430.2 Cardiovascular phenotype Benign
RCV000555135.8 Arrhythmogenic right ventricular dysplasia 12,Naxos disease Likely-Benign
RCV001125828.2 Arrhythmogenic right ventricular dysplasia 12 Uncertain-Significance
RCV001127938.2 Naxos disease Uncertain-Significance
RCV001725951.1 not provided Likely-Benign
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 C= A T
GRCh38.p14 chr 17 NC_000017.11:g.41769190= NC_000017.11:g.41769190C>A NC_000017.11:g.41769190C>T
GRCh37.p13 chr 17 NC_000017.10:g.39925442= NC_000017.10:g.39925442C>A NC_000017.10:g.39925442C>T
JUP RefSeqGene (LRG_401) NG_009090.2:g.22523= NG_009090.2:g.22523G>T NG_009090.2:g.22523G>A
JUP transcript variant 1 NM_002230.4:c.486= NM_002230.4:c.486G>T NM_002230.4:c.486G>A
JUP transcript variant 1 NM_002230.3:c.486= NM_002230.3:c.486G>T NM_002230.3:c.486G>A
JUP transcript variant 1 NM_002230.2:c.486= NM_002230.2:c.486G>T NM_002230.2:c.486G>A
JUP transcript variant 2 NM_021991.4:c.486= NM_021991.4:c.486G>T NM_021991.4:c.486G>A
JUP transcript variant 2 NM_021991.3:c.486= NM_021991.3:c.486G>T NM_021991.3:c.486G>A
JUP transcript variant 2 NM_021991.2:c.486= NM_021991.2:c.486G>T NM_021991.2:c.486G>A
JUP transcript variant 3 NM_001352773.2:c.486= NM_001352773.2:c.486G>T NM_001352773.2:c.486G>A
JUP transcript variant 3 NM_001352773.1:c.486= NM_001352773.1:c.486G>T NM_001352773.1:c.486G>A
JUP transcript variant 6 NM_001352776.2:c.486= NM_001352776.2:c.486G>T NM_001352776.2:c.486G>A
JUP transcript variant 6 NM_001352776.1:c.486= NM_001352776.1:c.486G>T NM_001352776.1:c.486G>A
JUP transcript variant 5 NM_001352775.2:c.486= NM_001352775.2:c.486G>T NM_001352775.2:c.486G>A
JUP transcript variant 5 NM_001352775.1:c.486= NM_001352775.1:c.486G>T NM_001352775.1:c.486G>A
JUP transcript variant 4 NM_001352774.2:c.486= NM_001352774.2:c.486G>T NM_001352774.2:c.486G>A
JUP transcript variant 4 NM_001352774.1:c.486= NM_001352774.1:c.486G>T NM_001352774.1:c.486G>A
JUP transcript variant 7 NM_001352777.2:c.486= NM_001352777.2:c.486G>T NM_001352777.2:c.486G>A
JUP transcript variant 7 NM_001352777.1:c.486= NM_001352777.1:c.486G>T NM_001352777.1:c.486G>A
GRCh37.p13 chr 17 fix patch HG185_PATCH NW_003571052.1:g.55832= NW_003571052.1:g.55832C>A NW_003571052.1:g.55832C>T
JUP transcript variant X3 XM_006721874.4:c.486= XM_006721874.4:c.486G>T XM_006721874.4:c.486G>A
JUP transcript variant X2 XM_006721874.3:c.486= XM_006721874.3:c.486G>T XM_006721874.3:c.486G>A
JUP transcript variant X3 XM_006721874.2:c.486= XM_006721874.2:c.486G>T XM_006721874.2:c.486G>A
JUP transcript variant X1 XM_006721874.1:c.486= XM_006721874.1:c.486G>T XM_006721874.1:c.486G>A
JUP transcript variant X6 XM_006721875.2:c.486= XM_006721875.2:c.486G>T XM_006721875.2:c.486G>A
JUP transcript variant X5 XM_006721875.1:c.486= XM_006721875.1:c.486G>T XM_006721875.1:c.486G>A
JUP transcript variant X5 XM_017024590.2:c.486= XM_017024590.2:c.486G>T XM_017024590.2:c.486G>A
JUP transcript variant X7 XM_017024590.1:c.486= XM_017024590.1:c.486G>T XM_017024590.1:c.486G>A
JUP transcript variant X4 XM_011524758.2:c.486= XM_011524758.2:c.486G>T XM_011524758.2:c.486G>A
JUP transcript variant X6 XM_011524758.1:c.486= XM_011524758.1:c.486G>T XM_011524758.1:c.486G>A
JUP transcript variant X11 XM_047435941.1:c.486= XM_047435941.1:c.486G>T XM_047435941.1:c.486G>A
JUP transcript variant X8 XM_047435935.1:c.537= XM_047435935.1:c.537G>T XM_047435935.1:c.537G>A
JUP transcript variant X1 XM_047435934.1:c.537= XM_047435934.1:c.537G>T XM_047435934.1:c.537G>A
JUP transcript variant X2 XM_047435937.1:c.537= XM_047435937.1:c.537G>T XM_047435937.1:c.537G>A
JUP transcript variant X10 XM_047435939.1:c.486= XM_047435939.1:c.486G>T XM_047435939.1:c.486G>A
JUP transcript variant X7 XM_047435940.1:c.486= XM_047435940.1:c.486G>T XM_047435940.1:c.486G>A
JUP transcript variant X12 XM_047435942.1:c.486= XM_047435942.1:c.486G>T XM_047435942.1:c.486G>A
JUP transcript variant X9 XM_047435938.1:c.486= XM_047435938.1:c.486G>T XM_047435938.1:c.486G>A
junction plakoglobin NP_002221.1:p.Ala162= NP_002221.1:p.Ala162= NP_002221.1:p.Ala162=
junction plakoglobin NP_068831.1:p.Ala162= NP_068831.1:p.Ala162= NP_068831.1:p.Ala162=
junction plakoglobin NP_001339702.1:p.Ala162= NP_001339702.1:p.Ala162= NP_001339702.1:p.Ala162=
junction plakoglobin NP_001339705.1:p.Ala162= NP_001339705.1:p.Ala162= NP_001339705.1:p.Ala162=
junction plakoglobin NP_001339704.1:p.Ala162= NP_001339704.1:p.Ala162= NP_001339704.1:p.Ala162=
junction plakoglobin NP_001339703.1:p.Ala162= NP_001339703.1:p.Ala162= NP_001339703.1:p.Ala162=
junction plakoglobin NP_001339706.1:p.Ala162= NP_001339706.1:p.Ala162= NP_001339706.1:p.Ala162=
junction plakoglobin isoform X2 XP_006721937.1:p.Ala162= XP_006721937.1:p.Ala162= XP_006721937.1:p.Ala162=
junction plakoglobin isoform X2 XP_006721938.1:p.Ala162= XP_006721938.1:p.Ala162= XP_006721938.1:p.Ala162=
junction plakoglobin isoform X2 XP_016880079.1:p.Ala162= XP_016880079.1:p.Ala162= XP_016880079.1:p.Ala162=
junction plakoglobin isoform X2 XP_011523060.1:p.Ala162= XP_011523060.1:p.Ala162= XP_011523060.1:p.Ala162=
junction plakoglobin isoform X2 XP_047291897.1:p.Ala162= XP_047291897.1:p.Ala162= XP_047291897.1:p.Ala162=
junction plakoglobin isoform X1 XP_047291891.1:p.Ala179= XP_047291891.1:p.Ala179= XP_047291891.1:p.Ala179=
junction plakoglobin isoform X1 XP_047291890.1:p.Ala179= XP_047291890.1:p.Ala179= XP_047291890.1:p.Ala179=
junction plakoglobin isoform X1 XP_047291893.1:p.Ala179= XP_047291893.1:p.Ala179= XP_047291893.1:p.Ala179=
junction plakoglobin isoform X2 XP_047291895.1:p.Ala162= XP_047291895.1:p.Ala162= XP_047291895.1:p.Ala162=
junction plakoglobin isoform X2 XP_047291896.1:p.Ala162= XP_047291896.1:p.Ala162= XP_047291896.1:p.Ala162=
junction plakoglobin isoform X2 XP_047291898.1:p.Ala162= XP_047291898.1:p.Ala162= XP_047291898.1:p.Ala162=
junction plakoglobin isoform X2 XP_047291894.1:p.Ala162= XP_047291894.1:p.Ala162= XP_047291894.1:p.Ala162=
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#.

23 SubSNP, 10 Frequency, 6 ClinVar submissions
No Submitter Submission ID Date (Build)
1 ILLUMINA ss168974683 Jul 04, 2010 (132)
2 NHLBI-ESP ss342454080 May 09, 2011 (134)
3 CLINSEQ_SNP ss491736678 May 04, 2012 (137)
4 ILLUMINA ss532737266 Sep 11, 2015 (146)
5 1000GENOMES ss1358638845 Aug 21, 2014 (142)
6 EVA_EXAC ss1692778112 Apr 09, 2015 (144)
7 HUMAN_LONGEVITY ss2216807754 Dec 20, 2016 (150)
8 GNOMAD ss2742715142 Oct 12, 2018 (152)
9 GNOMAD ss2749774308 Oct 12, 2018 (152)
10 GNOMAD ss2949815917 Oct 12, 2018 (152)
11 ILLUMINA ss3627668678 Oct 12, 2018 (152)
12 ILLUMINA ss3638160988 Oct 12, 2018 (152)
13 EGCUT_WGS ss3682416323 Jul 13, 2019 (153)
14 EVA_DECODE ss3700457776 Jul 13, 2019 (153)
15 EVA ss3825113891 Apr 27, 2020 (154)
16 GNOMAD ss4311497322 Apr 26, 2021 (155)
17 TOPMED ss5035825705 Apr 26, 2021 (155)
18 TOPMED ss5035825706 Apr 26, 2021 (155)
19 1000G_HIGH_COVERAGE ss5303118062 Oct 16, 2022 (156)
20 EVA ss5427567867 Oct 16, 2022 (156)
21 1000G_HIGH_COVERAGE ss5606831149 Oct 16, 2022 (156)
22 EVA ss5833978319 Oct 16, 2022 (156)
23 EVA ss5913942439 Oct 16, 2022 (156)
24 1000Genomes NC_000017.10 - 39925442 Oct 12, 2018 (152)
25 1000Genomes_30x NC_000017.11 - 41769190 Oct 16, 2022 (156)
26 Genetic variation in the Estonian population NC_000017.10 - 39925442 Oct 12, 2018 (152)
27 ExAC NC_000017.10 - 39925442 Oct 12, 2018 (152)
28 gnomAD - Genomes NC_000017.11 - 41769190 Apr 26, 2021 (155)
29 gnomAD - Exomes NC_000017.10 - 39925442 Jul 13, 2019 (153)
30 GO Exome Sequencing Project NC_000017.10 - 39925442 Oct 12, 2018 (152)
31 TopMed

Submission ignored due to conflicting rows:
Row 251371367 (NC_000017.11:41769189:C:A 2/264690)
Row 251371368 (NC_000017.11:41769189:C:T 92/264690)

- Apr 26, 2021 (155)
32 TopMed

Submission ignored due to conflicting rows:
Row 251371367 (NC_000017.11:41769189:C:A 2/264690)
Row 251371368 (NC_000017.11:41769189:C:T 92/264690)

- Apr 26, 2021 (155)
33 ALFA NC_000017.11 - 41769190 Apr 26, 2021 (155)
34 ClinVar RCV000039083.9 Oct 16, 2022 (156)
35 ClinVar RCV000247430.2 Oct 12, 2018 (152)
36 ClinVar RCV000555135.8 Oct 16, 2022 (156)
37 ClinVar RCV001125828.2 Oct 16, 2022 (156)
38 ClinVar RCV001127938.2 Oct 16, 2022 (156)
39 ClinVar RCV001725951.1 Oct 16, 2022 (156)
Help

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

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
161323777, ss5035825705 NC_000017.11:41769189:C:A NC_000017.11:41769189:C:A (self)
ss491736678 NC_000017.9:37178967:C:T NC_000017.11:41769189:C:T (self)
71879840, 28154571, 3221469, 12019547, 1570994, ss342454080, ss532737266, ss1358638845, ss1692778112, ss2742715142, ss2749774308, ss2949815917, ss3627668678, ss3638160988, ss3682416323, ss3825113891, ss5427567867, ss5833978319 NC_000017.10:39925441:C:T NC_000017.11:41769189:C:T (self)
RCV000039083.9, RCV000247430.2, RCV000555135.8, RCV001125828.2, RCV001127938.2, RCV001725951.1, 94357084, 507103720, 161323777, ss2216807754, ss3700457776, ss4311497322, ss5035825706, ss5303118062, ss5606831149, ss5913942439 NC_000017.11:41769189:C:T NC_000017.11:41769189:C:T (self)
ss168974683 NT_010783.15:5199593:C:T NC_000017.11:41769189:C:T (self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss2381916914 NC_000017.10:39925441:C:A NC_000017.11:41769189:C:A
Help

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

1 citation for rs113317262
PMID Title Author Year Journal
24033266 A systematic approach to assessing the clinical significance of genetic variants. Duzkale H et al. 2013 Clinical genetics
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.post761+d5e8e07