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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.

rs1456863593

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr14:102875668 (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
G>A / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000004 (1/251334, GnomAD_exome)
C=0.00005 (1/21382, ALFA)
A=0.00006 (1/16760, 8.3KJPN)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TRAF3 : Missense 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 21382 G=0.99995 C=0.00005 0.999906 0.0 9.4e-05 0
European Sub 16898 G=0.99994 C=0.00006 0.999882 0.0 0.000118 0
African Sub 20 G=1.00 C=0.00 1.0 0.0 0.0 N/A
African Others Sub 0 G=0 C=0 0 0 0 N/A
African American Sub 20 G=1.00 C=0.00 1.0 0.0 0.0 N/A
Asian Sub 0 G=0 C=0 0 0 0 N/A
East Asian Sub 0 G=0 C=0 0 0 0 N/A
Other Asian Sub 0 G=0 C=0 0 0 0 N/A
Latin American 1 Sub 354 G=1.000 C=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 18 G=1.00 C=0.00 1.0 0.0 0.0 N/A
South Asian Sub 0 G=0 C=0 0 0 0 N/A
Other Sub 4092 G=1.0000 C=0.0000 1.0 0.0 0.0 N/A


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 251334 G=0.999996 C=0.000004
gnomAD - Exomes European Sub 135260 G=0.999993 C=0.000007
gnomAD - Exomes Asian Sub 49010 G=1.00000 C=0.00000
gnomAD - Exomes American Sub 34592 G=1.00000 C=0.00000
gnomAD - Exomes African Sub 16256 G=1.00000 C=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10080 G=1.00000 C=0.00000
gnomAD - Exomes Other Sub 6136 G=1.0000 C=0.0000
Allele Frequency Aggregator Total Global 21382 G=0.99995 C=0.00005
Allele Frequency Aggregator European Sub 16898 G=0.99994 C=0.00006
Allele Frequency Aggregator Other Sub 4092 G=1.0000 C=0.0000
Allele Frequency Aggregator Latin American 1 Sub 354 G=1.000 C=0.000
Allele Frequency Aggregator African Sub 20 G=1.00 C=0.00
Allele Frequency Aggregator Latin American 2 Sub 18 G=1.00 C=0.00
Allele Frequency Aggregator South Asian Sub 0 G=0 C=0
Allele Frequency Aggregator Asian Sub 0 G=0 C=0
8.3KJPN JAPANESE Study-wide 16760 G=0.99994 A=0.00006
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 14 NC_000014.9:g.102875668G>A
GRCh38.p14 chr 14 NC_000014.9:g.102875668G>C
GRCh37.p13 chr 14 NC_000014.8:g.103342005G>A
GRCh37.p13 chr 14 NC_000014.8:g.103342005G>C
TRAF3 RefSeqGene (LRG_229) NG_027973.1:g.103190G>A
TRAF3 RefSeqGene (LRG_229) NG_027973.1:g.103190G>C
Gene: TRAF3, TNF receptor associated factor 3 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
TRAF3 transcript variant 4 NM_001199427.2:c.342G>A Q [CAG] > Q [CAA] Coding Sequence Variant
TNF receptor-associated factor 3 isoform 3 NP_001186356.1:p.Gln114= Q (Gln) > Q (Gln) Synonymous Variant
TRAF3 transcript variant 4 NM_001199427.2:c.342G>C Q [CAG] > H [CAC] Coding Sequence Variant
TNF receptor-associated factor 3 isoform 3 NP_001186356.1:p.Gln114His Q (Gln) > H (His) Missense Variant
TRAF3 transcript variant 3 NM_003300.4:c.342G>A Q [CAG] > Q [CAA] Coding Sequence Variant
TNF receptor-associated factor 3 isoform 1 NP_003291.2:p.Gln114= Q (Gln) > Q (Gln) Synonymous Variant
TRAF3 transcript variant 3 NM_003300.4:c.342G>C Q [CAG] > H [CAC] Coding Sequence Variant
TNF receptor-associated factor 3 isoform 1 NP_003291.2:p.Gln114His Q (Gln) > H (His) Missense Variant
TRAF3 transcript variant 1 NM_145725.3:c.342G>A Q [CAG] > Q [CAA] Coding Sequence Variant
TNF receptor-associated factor 3 isoform 1 NP_663777.1:p.Gln114= Q (Gln) > Q (Gln) Synonymous Variant
TRAF3 transcript variant 1 NM_145725.3:c.342G>C Q [CAG] > H [CAC] Coding Sequence Variant
TNF receptor-associated factor 3 isoform 1 NP_663777.1:p.Gln114His Q (Gln) > H (His) Missense Variant
TRAF3 transcript variant 5 NM_001385142.1:c.342G>A Q [CAG] > Q [CAA] Coding Sequence Variant
TNF receptor-associated factor 3 isoform 4 NP_001372071.1:p.Gln114= Q (Gln) > Q (Gln) Synonymous Variant
TRAF3 transcript variant 5 NM_001385142.1:c.342G>C Q [CAG] > H [CAC] Coding Sequence Variant
TNF receptor-associated factor 3 isoform 4 NP_001372071.1:p.Gln114His Q (Gln) > H (His) Missense Variant
TRAF3 transcript variant 6 NM_001385143.1:c.342G>A Q [CAG] > Q [CAA] Coding Sequence Variant
TNF receptor-associated factor 3 isoform 5 NP_001372072.1:p.Gln114= Q (Gln) > Q (Gln) Synonymous Variant
TRAF3 transcript variant 6 NM_001385143.1:c.342G>C Q [CAG] > H [CAC] Coding Sequence Variant
TNF receptor-associated factor 3 isoform 5 NP_001372072.1:p.Gln114His Q (Gln) > H (His) Missense Variant
TRAF3 transcript variant 2 NM_145726.3:c.342G>A Q [CAG] > Q [CAA] Coding Sequence Variant
TNF receptor-associated factor 3 isoform 2 NP_663778.1:p.Gln114= Q (Gln) > Q (Gln) Synonymous Variant
TRAF3 transcript variant 2 NM_145726.3:c.342G>C Q [CAG] > H [CAC] Coding Sequence Variant
TNF receptor-associated factor 3 isoform 2 NP_663778.1:p.Gln114His Q (Gln) > H (His) Missense Variant
TRAF3 transcript variant X1 XM_017021618.2:c.342G>A Q [CAG] > Q [CAA] Coding Sequence Variant
TNF receptor-associated factor 3 isoform X1 XP_016877107.1:p.Gln114= Q (Gln) > Q (Gln) Synonymous Variant
TRAF3 transcript variant X1 XM_017021618.2:c.342G>C Q [CAG] > H [CAC] Coding Sequence Variant
TNF receptor-associated factor 3 isoform X1 XP_016877107.1:p.Gln114His Q (Gln) > H (His) Missense Variant
TRAF3 transcript variant X2 XM_017021617.2:c.342G>A Q [CAG] > Q [CAA] Coding Sequence Variant
TNF receptor-associated factor 3 isoform X1 XP_016877106.1:p.Gln114= Q (Gln) > Q (Gln) Synonymous Variant
TRAF3 transcript variant X2 XM_017021617.2:c.342G>C Q [CAG] > H [CAC] Coding Sequence Variant
TNF receptor-associated factor 3 isoform X1 XP_016877106.1:p.Gln114His Q (Gln) > H (His) Missense Variant
TRAF3 transcript variant X3 XM_047431738.1:c.342G>A Q [CAG] > Q [CAA] Coding Sequence Variant
TNF receptor-associated factor 3 isoform X1 XP_047287694.1:p.Gln114= Q (Gln) > Q (Gln) Synonymous Variant
TRAF3 transcript variant X3 XM_047431738.1:c.342G>C Q [CAG] > H [CAC] Coding Sequence Variant
TNF receptor-associated factor 3 isoform X1 XP_047287694.1:p.Gln114His Q (Gln) > H (His) Missense Variant
TRAF3 transcript variant X4 XM_017021619.2:c.342G>A Q [CAG] > Q [CAA] Coding Sequence Variant
TNF receptor-associated factor 3 isoform X2 XP_016877108.1:p.Gln114= Q (Gln) > Q (Gln) Synonymous Variant
TRAF3 transcript variant X4 XM_017021619.2:c.342G>C Q [CAG] > H [CAC] Coding Sequence Variant
TNF receptor-associated factor 3 isoform X2 XP_016877108.1:p.Gln114His Q (Gln) > H (His) Missense Variant
TRAF3 transcript variant X5 XM_047431739.1:c.342G>A Q [CAG] > Q [CAA] Coding Sequence Variant
TNF receptor-associated factor 3 isoform X2 XP_047287695.1:p.Gln114= Q (Gln) > Q (Gln) Synonymous Variant
TRAF3 transcript variant X5 XM_047431739.1:c.342G>C Q [CAG] > H [CAC] Coding Sequence Variant
TNF receptor-associated factor 3 isoform X2 XP_047287695.1:p.Gln114His Q (Gln) > H (His) Missense Variant
TRAF3 transcript variant X6 XM_011537116.4:c.342G>A Q [CAG] > Q [CAA] Coding Sequence Variant
TNF receptor-associated factor 3 isoform X3 XP_011535418.1:p.Gln114= Q (Gln) > Q (Gln) Synonymous Variant
TRAF3 transcript variant X6 XM_011537116.4:c.342G>C Q [CAG] > H [CAC] Coding Sequence Variant
TNF receptor-associated factor 3 isoform X3 XP_011535418.1:p.Gln114His Q (Gln) > H (His) Missense Variant
TRAF3 transcript variant X7 XM_047431740.1:c.342G>A Q [CAG] > Q [CAA] Coding Sequence Variant
TNF receptor-associated factor 3 isoform X3 XP_047287696.1:p.Gln114= Q (Gln) > Q (Gln) Synonymous Variant
TRAF3 transcript variant X7 XM_047431740.1:c.342G>C Q [CAG] > H [CAC] Coding Sequence Variant
TNF receptor-associated factor 3 isoform X3 XP_047287696.1:p.Gln114His Q (Gln) > H (His) Missense Variant
TRAF3 transcript variant X8 XM_011537117.4:c.342G>A Q [CAG] > Q [CAA] Coding Sequence Variant
TNF receptor-associated factor 3 isoform X4 XP_011535419.1:p.Gln114= Q (Gln) > Q (Gln) Synonymous Variant
TRAF3 transcript variant X8 XM_011537117.4:c.342G>C Q [CAG] > H [CAC] Coding Sequence Variant
TNF receptor-associated factor 3 isoform X4 XP_011535419.1:p.Gln114His Q (Gln) > H (His) Missense Variant
TRAF3 transcript variant X9 XM_047431741.1:c.342G>A Q [CAG] > Q [CAA] Coding Sequence Variant
TNF receptor-associated factor 3 isoform X4 XP_047287697.1:p.Gln114= Q (Gln) > Q (Gln) Synonymous Variant
TRAF3 transcript variant X9 XM_047431741.1:c.342G>C Q [CAG] > H [CAC] Coding Sequence Variant
TNF receptor-associated factor 3 isoform X4 XP_047287697.1:p.Gln114His Q (Gln) > H (His) Missense Variant
TRAF3 transcript variant X10 XM_047431742.1:c.342G>A Q [CAG] > Q [CAA] Coding Sequence Variant
TNF receptor-associated factor 3 isoform X4 XP_047287698.1:p.Gln114= Q (Gln) > Q (Gln) Synonymous Variant
TRAF3 transcript variant X10 XM_047431742.1:c.342G>C Q [CAG] > H [CAC] Coding Sequence Variant
TNF receptor-associated factor 3 isoform X4 XP_047287698.1:p.Gln114His Q (Gln) > H (His) Missense Variant
TRAF3 transcript variant X11 XM_011537118.4:c.342G>A Q [CAG] > Q [CAA] Coding Sequence Variant
TNF receptor-associated factor 3 isoform X5 XP_011535420.1:p.Gln114= Q (Gln) > Q (Gln) Synonymous Variant
TRAF3 transcript variant X11 XM_011537118.4:c.342G>C Q [CAG] > H [CAC] Coding Sequence Variant
TNF receptor-associated factor 3 isoform X5 XP_011535420.1:p.Gln114His Q (Gln) > H (His) Missense Variant
TRAF3 transcript variant X12 XM_017021620.3:c.342G>A Q [CAG] > Q [CAA] Coding Sequence Variant
TNF receptor-associated factor 3 isoform X6 XP_016877109.1:p.Gln114= Q (Gln) > Q (Gln) Synonymous Variant
TRAF3 transcript variant X12 XM_017021620.3:c.342G>C Q [CAG] > H [CAC] Coding Sequence Variant
TNF receptor-associated factor 3 isoform X6 XP_016877109.1:p.Gln114His Q (Gln) > H (His) Missense 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 G= A C
GRCh38.p14 chr 14 NC_000014.9:g.102875668= NC_000014.9:g.102875668G>A NC_000014.9:g.102875668G>C
GRCh37.p13 chr 14 NC_000014.8:g.103342005= NC_000014.8:g.103342005G>A NC_000014.8:g.103342005G>C
TRAF3 RefSeqGene (LRG_229) NG_027973.1:g.103190= NG_027973.1:g.103190G>A NG_027973.1:g.103190G>C
TRAF3 transcript variant 3 NM_003300.4:c.342= NM_003300.4:c.342G>A NM_003300.4:c.342G>C
TRAF3 transcript variant 3 NM_003300.3:c.342= NM_003300.3:c.342G>A NM_003300.3:c.342G>C
TRAF3 transcript variant 1 NM_145725.3:c.342= NM_145725.3:c.342G>A NM_145725.3:c.342G>C
TRAF3 transcript variant 1 NM_145725.2:c.342= NM_145725.2:c.342G>A NM_145725.2:c.342G>C
TRAF3 transcript variant 2 NM_145726.3:c.342= NM_145726.3:c.342G>A NM_145726.3:c.342G>C
TRAF3 transcript variant 2 NM_145726.2:c.342= NM_145726.2:c.342G>A NM_145726.2:c.342G>C
TRAF3 transcript variant 4 NM_001199427.2:c.342= NM_001199427.2:c.342G>A NM_001199427.2:c.342G>C
TRAF3 transcript variant 4 NM_001199427.1:c.342= NM_001199427.1:c.342G>A NM_001199427.1:c.342G>C
TRAF3 transcript variant 6 NM_001385143.1:c.342= NM_001385143.1:c.342G>A NM_001385143.1:c.342G>C
TRAF3 transcript variant 5 NM_001385142.1:c.342= NM_001385142.1:c.342G>A NM_001385142.1:c.342G>C
TRAF3 transcript variant X6 XM_011537116.4:c.342= XM_011537116.4:c.342G>A XM_011537116.4:c.342G>C
TRAF3 transcript variant X4 XM_011537116.3:c.342= XM_011537116.3:c.342G>A XM_011537116.3:c.342G>C
TRAF3 transcript variant X4 XM_011537116.2:c.342= XM_011537116.2:c.342G>A XM_011537116.2:c.342G>C
TRAF3 transcript variant X1 XM_011537116.1:c.342= XM_011537116.1:c.342G>A XM_011537116.1:c.342G>C
TRAF3 transcript variant X8 XM_011537117.4:c.342= XM_011537117.4:c.342G>A XM_011537117.4:c.342G>C
TRAF3 transcript variant X5 XM_011537117.3:c.342= XM_011537117.3:c.342G>A XM_011537117.3:c.342G>C
TRAF3 transcript variant X5 XM_011537117.2:c.342= XM_011537117.2:c.342G>A XM_011537117.2:c.342G>C
TRAF3 transcript variant X2 XM_011537117.1:c.342= XM_011537117.1:c.342G>A XM_011537117.1:c.342G>C
TRAF3 transcript variant X11 XM_011537118.4:c.342= XM_011537118.4:c.342G>A XM_011537118.4:c.342G>C
TRAF3 transcript variant X6 XM_011537118.3:c.342= XM_011537118.3:c.342G>A XM_011537118.3:c.342G>C
TRAF3 transcript variant X6 XM_011537118.2:c.342= XM_011537118.2:c.342G>A XM_011537118.2:c.342G>C
TRAF3 transcript variant X3 XM_011537118.1:c.342= XM_011537118.1:c.342G>A XM_011537118.1:c.342G>C
TRAF3 transcript variant X12 XM_017021620.3:c.342= XM_017021620.3:c.342G>A XM_017021620.3:c.342G>C
TRAF3 transcript variant X7 XM_017021620.2:c.342= XM_017021620.2:c.342G>A XM_017021620.2:c.342G>C
TRAF3 transcript variant X7 XM_017021620.1:c.342= XM_017021620.1:c.342G>A XM_017021620.1:c.342G>C
TRAF3 transcript variant X1 XM_017021618.2:c.342= XM_017021618.2:c.342G>A XM_017021618.2:c.342G>C
TRAF3 transcript variant X2 XM_017021618.1:c.342= XM_017021618.1:c.342G>A XM_017021618.1:c.342G>C
TRAF3 transcript variant X4 XM_017021619.2:c.342= XM_017021619.2:c.342G>A XM_017021619.2:c.342G>C
TRAF3 transcript variant X3 XM_017021619.1:c.342= XM_017021619.1:c.342G>A XM_017021619.1:c.342G>C
TRAF3 transcript variant X2 XM_017021617.2:c.342= XM_017021617.2:c.342G>A XM_017021617.2:c.342G>C
TRAF3 transcript variant X1 XM_017021617.1:c.342= XM_017021617.1:c.342G>A XM_017021617.1:c.342G>C
TRAF3 transcript variant X9 XM_047431741.1:c.342= XM_047431741.1:c.342G>A XM_047431741.1:c.342G>C
TRAF3 transcript variant X3 XM_047431738.1:c.342= XM_047431738.1:c.342G>A XM_047431738.1:c.342G>C
TRAF3 transcript variant X5 XM_047431739.1:c.342= XM_047431739.1:c.342G>A XM_047431739.1:c.342G>C
TRAF3 transcript variant X7 XM_047431740.1:c.342= XM_047431740.1:c.342G>A XM_047431740.1:c.342G>C
TRAF3 transcript variant X10 XM_047431742.1:c.342= XM_047431742.1:c.342G>A XM_047431742.1:c.342G>C
TNF receptor-associated factor 3 isoform 1 NP_003291.2:p.Gln114= NP_003291.2:p.Gln114= NP_003291.2:p.Gln114His
TNF receptor-associated factor 3 isoform 1 NP_663777.1:p.Gln114= NP_663777.1:p.Gln114= NP_663777.1:p.Gln114His
TNF receptor-associated factor 3 isoform 2 NP_663778.1:p.Gln114= NP_663778.1:p.Gln114= NP_663778.1:p.Gln114His
TNF receptor-associated factor 3 isoform 3 NP_001186356.1:p.Gln114= NP_001186356.1:p.Gln114= NP_001186356.1:p.Gln114His
TNF receptor-associated factor 3 isoform 5 NP_001372072.1:p.Gln114= NP_001372072.1:p.Gln114= NP_001372072.1:p.Gln114His
TNF receptor-associated factor 3 isoform 4 NP_001372071.1:p.Gln114= NP_001372071.1:p.Gln114= NP_001372071.1:p.Gln114His
TNF receptor-associated factor 3 isoform X3 XP_011535418.1:p.Gln114= XP_011535418.1:p.Gln114= XP_011535418.1:p.Gln114His
TNF receptor-associated factor 3 isoform X4 XP_011535419.1:p.Gln114= XP_011535419.1:p.Gln114= XP_011535419.1:p.Gln114His
TNF receptor-associated factor 3 isoform X5 XP_011535420.1:p.Gln114= XP_011535420.1:p.Gln114= XP_011535420.1:p.Gln114His
TNF receptor-associated factor 3 isoform X6 XP_016877109.1:p.Gln114= XP_016877109.1:p.Gln114= XP_016877109.1:p.Gln114His
TNF receptor-associated factor 3 isoform X1 XP_016877107.1:p.Gln114= XP_016877107.1:p.Gln114= XP_016877107.1:p.Gln114His
TNF receptor-associated factor 3 isoform X2 XP_016877108.1:p.Gln114= XP_016877108.1:p.Gln114= XP_016877108.1:p.Gln114His
TNF receptor-associated factor 3 isoform X1 XP_016877106.1:p.Gln114= XP_016877106.1:p.Gln114= XP_016877106.1:p.Gln114His
TNF receptor-associated factor 3 isoform X4 XP_047287697.1:p.Gln114= XP_047287697.1:p.Gln114= XP_047287697.1:p.Gln114His
TNF receptor-associated factor 3 isoform X1 XP_047287694.1:p.Gln114= XP_047287694.1:p.Gln114= XP_047287694.1:p.Gln114His
TNF receptor-associated factor 3 isoform X2 XP_047287695.1:p.Gln114= XP_047287695.1:p.Gln114= XP_047287695.1:p.Gln114His
TNF receptor-associated factor 3 isoform X3 XP_047287696.1:p.Gln114= XP_047287696.1:p.Gln114= XP_047287696.1:p.Gln114His
TNF receptor-associated factor 3 isoform X4 XP_047287698.1:p.Gln114= XP_047287698.1:p.Gln114= XP_047287698.1:p.Gln114His
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#.

2 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2740964410 Nov 08, 2017 (151)
2 TOMMO_GENOMICS ss5214891243 Apr 26, 2021 (155)
3 gnomAD - Exomes NC_000014.8 - 103342005 Jul 13, 2019 (153)
4 8.3KJPN NC_000014.8 - 103342005 Apr 26, 2021 (155)
5 ALFA NC_000014.9 - 102875668 Apr 26, 2021 (155)
Help

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

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
72860550, ss5214891243 NC_000014.8:103342004:G:A NC_000014.9:102875667:G:A (self)
10223888, ss2740964410 NC_000014.8:103342004:G:C NC_000014.9:102875667:G:C (self)
11115013350 NC_000014.9:102875667:G:C NC_000014.9:102875667:G:C (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1456863593

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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
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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