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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.

rs1475521028

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:109483972 (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
A=0.000004 (1/248730, GnomAD_exome)
C=0.000007 (1/140206, GnomAD)
C=0.00000 (0/10680, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
UBE3B : 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 10680 G=1.00000 C=0.00000 1.0 0.0 0.0 N/A
European Sub 6962 G=1.0000 C=0.0000 1.0 0.0 0.0 N/A
African Sub 2294 G=1.0000 C=0.0000 1.0 0.0 0.0 N/A
African Others Sub 84 G=1.00 C=0.00 1.0 0.0 0.0 N/A
African American Sub 2210 G=1.0000 C=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 G=1.000 C=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 G=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 G=1.00 C=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 G=1.000 C=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 G=1.000 C=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 G=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Sub 466 G=1.000 C=0.000 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 248730 G=0.999996 A=0.000004
gnomAD - Exomes European Sub 134342 G=1.000000 A=0.000000
gnomAD - Exomes Asian Sub 47986 G=1.00000 A=0.00000
gnomAD - Exomes American Sub 34106 G=0.99997 A=0.00003
gnomAD - Exomes African Sub 16182 G=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10020 G=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6094 G=1.0000 A=0.0000
gnomAD - Genomes Global Study-wide 140206 G=0.999993 C=0.000007
gnomAD - Genomes European Sub 75922 G=1.00000 C=0.00000
gnomAD - Genomes African Sub 42018 G=1.00000 C=0.00000
gnomAD - Genomes American Sub 13658 G=0.99993 C=0.00007
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3132 G=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2152 G=1.0000 C=0.0000
Allele Frequency Aggregator Total Global 10680 G=1.00000 C=0.00000
Allele Frequency Aggregator European Sub 6962 G=1.0000 C=0.0000
Allele Frequency Aggregator African Sub 2294 G=1.0000 C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 C=0.000
Allele Frequency Aggregator Other Sub 466 G=1.000 C=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 C=0.000
Allele Frequency Aggregator Asian Sub 108 G=1.000 C=0.000
Allele Frequency Aggregator South Asian Sub 94 G=1.00 C=0.00
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 12 NC_000012.12:g.109483972G>A
GRCh38.p14 chr 12 NC_000012.12:g.109483972G>C
GRCh37.p13 chr 12 NC_000012.11:g.109921777G>A
GRCh37.p13 chr 12 NC_000012.11:g.109921777G>C
UBE3B RefSeqGene NG_033898.1:g.11350G>A
UBE3B RefSeqGene NG_033898.1:g.11350G>C
Gene: UBE3B, ubiquitin protein ligase E3B (plus strand)
Molecule type Change Amino acid[Codon] SO Term
UBE3B transcript variant 1 NM_130466.4:c.273G>A E [GAG] > E [GAA] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform 1 NP_569733.2:p.Glu91= E (Glu) > E (Glu) Synonymous Variant
UBE3B transcript variant 1 NM_130466.4:c.273G>C E [GAG] > D [GAC] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform 1 NP_569733.2:p.Glu91Asp E (Glu) > D (Asp) Missense Variant
UBE3B transcript variant 3 NM_183415.3:c.273G>A E [GAG] > E [GAA] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform 1 NP_904324.1:p.Glu91= E (Glu) > E (Glu) Synonymous Variant
UBE3B transcript variant 3 NM_183415.3:c.273G>C E [GAG] > D [GAC] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform 1 NP_904324.1:p.Glu91Asp E (Glu) > D (Asp) Missense Variant
UBE3B transcript variant 5 NM_001270450.2:c.273G>A E [GAG] > E [GAA] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform 3 NP_001257379.1:p.Glu91= E (Glu) > E (Glu) Synonymous Variant
UBE3B transcript variant 5 NM_001270450.2:c.273G>C E [GAG] > D [GAC] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform 3 NP_001257379.1:p.Glu91Asp E (Glu) > D (Asp) Missense Variant
UBE3B transcript variant 4 NM_001270449.2:c.273G>A E [GAG] > E [GAA] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform 3 NP_001257378.1:p.Glu91= E (Glu) > E (Glu) Synonymous Variant
UBE3B transcript variant 4 NM_001270449.2:c.273G>C E [GAG] > D [GAC] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform 3 NP_001257378.1:p.Glu91Asp E (Glu) > D (Asp) Missense Variant
UBE3B transcript variant 6 NM_001270451.2:c.273G>A E [GAG] > E [GAA] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform 3 NP_001257380.1:p.Glu91= E (Glu) > E (Glu) Synonymous Variant
UBE3B transcript variant 6 NM_001270451.2:c.273G>C E [GAG] > D [GAC] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform 3 NP_001257380.1:p.Glu91Asp E (Glu) > D (Asp) Missense Variant
UBE3B transcript variant X1 XM_005253987.3:c.273G>A E [GAG] > E [GAA] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform X1 XP_005254044.1:p.Glu91= E (Glu) > E (Glu) Synonymous Variant
UBE3B transcript variant X1 XM_005253987.3:c.273G>C E [GAG] > D [GAC] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform X1 XP_005254044.1:p.Glu91Asp E (Glu) > D (Asp) Missense Variant
UBE3B transcript variant X2 XM_011538959.3:c.273G>A E [GAG] > E [GAA] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform X1 XP_011537261.1:p.Glu91= E (Glu) > E (Glu) Synonymous Variant
UBE3B transcript variant X2 XM_011538959.3:c.273G>C E [GAG] > D [GAC] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform X1 XP_011537261.1:p.Glu91Asp E (Glu) > D (Asp) Missense Variant
UBE3B transcript variant X3 XM_047429844.1:c.273G>A E [GAG] > E [GAA] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform X2 XP_047285800.1:p.Glu91= E (Glu) > E (Glu) Synonymous Variant
UBE3B transcript variant X3 XM_047429844.1:c.273G>C E [GAG] > D [GAC] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform X2 XP_047285800.1:p.Glu91Asp E (Glu) > D (Asp) Missense Variant
UBE3B transcript variant X4 XM_047429845.1:c.273G>A E [GAG] > E [GAA] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform X2 XP_047285801.1:p.Glu91= E (Glu) > E (Glu) Synonymous Variant
UBE3B transcript variant X4 XM_047429845.1:c.273G>C E [GAG] > D [GAC] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform X2 XP_047285801.1:p.Glu91Asp E (Glu) > D (Asp) Missense Variant
UBE3B transcript variant X5 XM_006719681.4:c.273G>A E [GAG] > E [GAA] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform X3 XP_006719744.1:p.Glu91= E (Glu) > E (Glu) Synonymous Variant
UBE3B transcript variant X5 XM_006719681.4:c.273G>C E [GAG] > D [GAC] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform X3 XP_006719744.1:p.Glu91Asp E (Glu) > D (Asp) Missense Variant
UBE3B transcript variant X6 XM_047429846.1:c.273G>A E [GAG] > E [GAA] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform X3 XP_047285802.1:p.Glu91= E (Glu) > E (Glu) Synonymous Variant
UBE3B transcript variant X6 XM_047429846.1:c.273G>C E [GAG] > D [GAC] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform X3 XP_047285802.1:p.Glu91Asp E (Glu) > D (Asp) Missense Variant
UBE3B transcript variant X7 XM_047429847.1:c.273G>A E [GAG] > E [GAA] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform X3 XP_047285803.1:p.Glu91= E (Glu) > E (Glu) Synonymous Variant
UBE3B transcript variant X7 XM_047429847.1:c.273G>C E [GAG] > D [GAC] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform X3 XP_047285803.1:p.Glu91Asp E (Glu) > D (Asp) Missense Variant
UBE3B transcript variant X8 XM_047429848.1:c.273G>A E [GAG] > E [GAA] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform X3 XP_047285804.1:p.Glu91= E (Glu) > E (Glu) Synonymous Variant
UBE3B transcript variant X8 XM_047429848.1:c.273G>C E [GAG] > D [GAC] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform X3 XP_047285804.1:p.Glu91Asp E (Glu) > D (Asp) Missense Variant
UBE3B transcript variant X9 XM_006719682.3:c.273G>A E [GAG] > E [GAA] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform X4 XP_006719745.1:p.Glu91= E (Glu) > E (Glu) Synonymous Variant
UBE3B transcript variant X9 XM_006719682.3:c.273G>C E [GAG] > D [GAC] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform X4 XP_006719745.1:p.Glu91Asp E (Glu) > D (Asp) Missense Variant
UBE3B transcript variant X10 XM_047429849.1:c.273G>A E [GAG] > E [GAA] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform X4 XP_047285805.1:p.Glu91= E (Glu) > E (Glu) Synonymous Variant
UBE3B transcript variant X10 XM_047429849.1:c.273G>C E [GAG] > D [GAC] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform X4 XP_047285805.1:p.Glu91Asp E (Glu) > D (Asp) Missense Variant
UBE3B transcript variant X11 XM_047429850.1:c.273G>A E [GAG] > E [GAA] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform X4 XP_047285806.1:p.Glu91= E (Glu) > E (Glu) Synonymous Variant
UBE3B transcript variant X11 XM_047429850.1:c.273G>C E [GAG] > D [GAC] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform X4 XP_047285806.1:p.Glu91Asp E (Glu) > D (Asp) Missense Variant
UBE3B transcript variant X12 XM_011538961.2:c.273G>A E [GAG] > E [GAA] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform X5 XP_011537263.1:p.Glu91= E (Glu) > E (Glu) Synonymous Variant
UBE3B transcript variant X12 XM_011538961.2:c.273G>C E [GAG] > D [GAC] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform X5 XP_011537263.1:p.Glu91Asp E (Glu) > D (Asp) Missense Variant
UBE3B transcript variant X13 XM_047429851.1:c.273G>A E [GAG] > E [GAA] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform X5 XP_047285807.1:p.Glu91= E (Glu) > E (Glu) Synonymous Variant
UBE3B transcript variant X13 XM_047429851.1:c.273G>C E [GAG] > D [GAC] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform X5 XP_047285807.1:p.Glu91Asp E (Glu) > D (Asp) Missense Variant
UBE3B transcript variant X14 XM_047429852.1:c.273G>A E [GAG] > E [GAA] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform X5 XP_047285808.1:p.Glu91= E (Glu) > E (Glu) Synonymous Variant
UBE3B transcript variant X14 XM_047429852.1:c.273G>C E [GAG] > D [GAC] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform X5 XP_047285808.1:p.Glu91Asp E (Glu) > D (Asp) Missense Variant
UBE3B transcript variant X15 XM_047429853.1:c.273G>A E [GAG] > E [GAA] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform X6 XP_047285809.1:p.Glu91= E (Glu) > E (Glu) Synonymous Variant
UBE3B transcript variant X15 XM_047429853.1:c.273G>C E [GAG] > D [GAC] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform X6 XP_047285809.1:p.Glu91Asp E (Glu) > D (Asp) Missense Variant
UBE3B transcript variant X16 XM_047429854.1:c.273G>A E [GAG] > E [GAA] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform X7 XP_047285810.1:p.Glu91= E (Glu) > E (Glu) Synonymous Variant
UBE3B transcript variant X16 XM_047429854.1:c.273G>C E [GAG] > D [GAC] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform X7 XP_047285810.1:p.Glu91Asp E (Glu) > D (Asp) Missense Variant
UBE3B transcript variant X17 XM_017020196.2:c.273G>A E [GAG] > E [GAA] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform X8 XP_016875685.1:p.Glu91= E (Glu) > E (Glu) Synonymous Variant
UBE3B transcript variant X17 XM_017020196.2:c.273G>C E [GAG] > D [GAC] Coding Sequence Variant
ubiquitin-protein ligase E3B isoform X8 XP_016875685.1:p.Glu91Asp E (Glu) > D (Asp) 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 12 NC_000012.12:g.109483972= NC_000012.12:g.109483972G>A NC_000012.12:g.109483972G>C
GRCh37.p13 chr 12 NC_000012.11:g.109921777= NC_000012.11:g.109921777G>A NC_000012.11:g.109921777G>C
UBE3B RefSeqGene NG_033898.1:g.11350= NG_033898.1:g.11350G>A NG_033898.1:g.11350G>C
UBE3B transcript variant 1 NM_130466.4:c.273= NM_130466.4:c.273G>A NM_130466.4:c.273G>C
UBE3B transcript variant 1 NM_130466.3:c.273= NM_130466.3:c.273G>A NM_130466.3:c.273G>C
UBE3B transcript variant 3 NM_183415.3:c.273= NM_183415.3:c.273G>A NM_183415.3:c.273G>C
UBE3B transcript variant 3 NM_183415.2:c.273= NM_183415.2:c.273G>A NM_183415.2:c.273G>C
UBE3B transcript variant 4 NM_001270449.2:c.273= NM_001270449.2:c.273G>A NM_001270449.2:c.273G>C
UBE3B transcript variant 4 NM_001270449.1:c.273= NM_001270449.1:c.273G>A NM_001270449.1:c.273G>C
UBE3B transcript variant 6 NM_001270451.2:c.273= NM_001270451.2:c.273G>A NM_001270451.2:c.273G>C
UBE3B transcript variant 6 NM_001270451.1:c.273= NM_001270451.1:c.273G>A NM_001270451.1:c.273G>C
UBE3B transcript variant 5 NM_001270450.2:c.273= NM_001270450.2:c.273G>A NM_001270450.2:c.273G>C
UBE3B transcript variant 5 NM_001270450.1:c.273= NM_001270450.1:c.273G>A NM_001270450.1:c.273G>C
UBE3B transcript variant X5 XM_006719681.4:c.273= XM_006719681.4:c.273G>A XM_006719681.4:c.273G>C
UBE3B transcript variant X3 XM_006719681.3:c.273= XM_006719681.3:c.273G>A XM_006719681.3:c.273G>C
UBE3B transcript variant X4 XM_006719681.2:c.273= XM_006719681.2:c.273G>A XM_006719681.2:c.273G>C
UBE3B transcript variant X2 XM_006719681.1:c.273= XM_006719681.1:c.273G>A XM_006719681.1:c.273G>C
UBE3B transcript variant X9 XM_006719682.3:c.273= XM_006719682.3:c.273G>A XM_006719682.3:c.273G>C
UBE3B transcript variant X4 XM_006719682.2:c.273= XM_006719682.2:c.273G>A XM_006719682.2:c.273G>C
UBE3B transcript variant X5 XM_006719682.1:c.273= XM_006719682.1:c.273G>A XM_006719682.1:c.273G>C
UBE3B transcript variant X1 XM_005253987.3:c.273= XM_005253987.3:c.273G>A XM_005253987.3:c.273G>C
UBE3B transcript variant X1 XM_005253987.2:c.273= XM_005253987.2:c.273G>A XM_005253987.2:c.273G>C
UBE3B transcript variant X1 XM_005253987.1:c.273= XM_005253987.1:c.273G>A XM_005253987.1:c.273G>C
UBE3B transcript variant X2 XM_011538959.3:c.273= XM_011538959.3:c.273G>A XM_011538959.3:c.273G>C
UBE3B transcript variant X2 XM_011538959.2:c.273= XM_011538959.2:c.273G>A XM_011538959.2:c.273G>C
UBE3B transcript variant X2 XM_011538959.1:c.273= XM_011538959.1:c.273G>A XM_011538959.1:c.273G>C
UBE3B transcript variant X12 XM_011538961.2:c.273= XM_011538961.2:c.273G>A XM_011538961.2:c.273G>C
UBE3B transcript variant X5 XM_011538961.1:c.273= XM_011538961.1:c.273G>A XM_011538961.1:c.273G>C
UBE3B transcript variant X17 XM_017020196.2:c.273= XM_017020196.2:c.273G>A XM_017020196.2:c.273G>C
UBE3B transcript variant X10 XM_017020196.1:c.273= XM_017020196.1:c.273G>A XM_017020196.1:c.273G>C
UBE3B transcript variant X14 XM_047429852.1:c.273= XM_047429852.1:c.273G>A XM_047429852.1:c.273G>C
UBE3B transcript variant X13 XM_047429851.1:c.273= XM_047429851.1:c.273G>A XM_047429851.1:c.273G>C
UBE3B transcript variant X3 XM_047429844.1:c.273= XM_047429844.1:c.273G>A XM_047429844.1:c.273G>C
UBE3B transcript variant X4 XM_047429845.1:c.273= XM_047429845.1:c.273G>A XM_047429845.1:c.273G>C
UBE3B transcript variant X7 XM_047429847.1:c.273= XM_047429847.1:c.273G>A XM_047429847.1:c.273G>C
UBE3B transcript variant X6 XM_047429846.1:c.273= XM_047429846.1:c.273G>A XM_047429846.1:c.273G>C
UBE3B transcript variant X10 XM_047429849.1:c.273= XM_047429849.1:c.273G>A XM_047429849.1:c.273G>C
UBE3B transcript variant X8 XM_047429848.1:c.273= XM_047429848.1:c.273G>A XM_047429848.1:c.273G>C
UBE3B transcript variant X11 XM_047429850.1:c.273= XM_047429850.1:c.273G>A XM_047429850.1:c.273G>C
UBE3B transcript variant 2 NM_183414.1:c.273= NM_183414.1:c.273G>A NM_183414.1:c.273G>C
UBE3B transcript variant X15 XM_047429853.1:c.273= XM_047429853.1:c.273G>A XM_047429853.1:c.273G>C
UBE3B transcript variant X16 XM_047429854.1:c.273= XM_047429854.1:c.273G>A XM_047429854.1:c.273G>C
ubiquitin-protein ligase E3B isoform 1 NP_569733.2:p.Glu91= NP_569733.2:p.Glu91= NP_569733.2:p.Glu91Asp
ubiquitin-protein ligase E3B isoform 1 NP_904324.1:p.Glu91= NP_904324.1:p.Glu91= NP_904324.1:p.Glu91Asp
ubiquitin-protein ligase E3B isoform 3 NP_001257378.1:p.Glu91= NP_001257378.1:p.Glu91= NP_001257378.1:p.Glu91Asp
ubiquitin-protein ligase E3B isoform 3 NP_001257380.1:p.Glu91= NP_001257380.1:p.Glu91= NP_001257380.1:p.Glu91Asp
ubiquitin-protein ligase E3B isoform 3 NP_001257379.1:p.Glu91= NP_001257379.1:p.Glu91= NP_001257379.1:p.Glu91Asp
ubiquitin-protein ligase E3B isoform X3 XP_006719744.1:p.Glu91= XP_006719744.1:p.Glu91= XP_006719744.1:p.Glu91Asp
ubiquitin-protein ligase E3B isoform X4 XP_006719745.1:p.Glu91= XP_006719745.1:p.Glu91= XP_006719745.1:p.Glu91Asp
ubiquitin-protein ligase E3B isoform X1 XP_005254044.1:p.Glu91= XP_005254044.1:p.Glu91= XP_005254044.1:p.Glu91Asp
ubiquitin-protein ligase E3B isoform X1 XP_011537261.1:p.Glu91= XP_011537261.1:p.Glu91= XP_011537261.1:p.Glu91Asp
ubiquitin-protein ligase E3B isoform X5 XP_011537263.1:p.Glu91= XP_011537263.1:p.Glu91= XP_011537263.1:p.Glu91Asp
ubiquitin-protein ligase E3B isoform X8 XP_016875685.1:p.Glu91= XP_016875685.1:p.Glu91= XP_016875685.1:p.Glu91Asp
ubiquitin-protein ligase E3B isoform X5 XP_047285808.1:p.Glu91= XP_047285808.1:p.Glu91= XP_047285808.1:p.Glu91Asp
ubiquitin-protein ligase E3B isoform X5 XP_047285807.1:p.Glu91= XP_047285807.1:p.Glu91= XP_047285807.1:p.Glu91Asp
ubiquitin-protein ligase E3B isoform X2 XP_047285800.1:p.Glu91= XP_047285800.1:p.Glu91= XP_047285800.1:p.Glu91Asp
ubiquitin-protein ligase E3B isoform X2 XP_047285801.1:p.Glu91= XP_047285801.1:p.Glu91= XP_047285801.1:p.Glu91Asp
ubiquitin-protein ligase E3B isoform X3 XP_047285803.1:p.Glu91= XP_047285803.1:p.Glu91= XP_047285803.1:p.Glu91Asp
ubiquitin-protein ligase E3B isoform X3 XP_047285802.1:p.Glu91= XP_047285802.1:p.Glu91= XP_047285802.1:p.Glu91Asp
ubiquitin-protein ligase E3B isoform X4 XP_047285805.1:p.Glu91= XP_047285805.1:p.Glu91= XP_047285805.1:p.Glu91Asp
ubiquitin-protein ligase E3B isoform X3 XP_047285804.1:p.Glu91= XP_047285804.1:p.Glu91= XP_047285804.1:p.Glu91Asp
ubiquitin-protein ligase E3B isoform X4 XP_047285806.1:p.Glu91= XP_047285806.1:p.Glu91= XP_047285806.1:p.Glu91Asp
ubiquitin-protein ligase E3B isoform X6 XP_047285809.1:p.Glu91= XP_047285809.1:p.Glu91= XP_047285809.1:p.Glu91Asp
ubiquitin-protein ligase E3B isoform X7 XP_047285810.1:p.Glu91= XP_047285810.1:p.Glu91= XP_047285810.1:p.Glu91Asp
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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 ss2740117788 Nov 08, 2017 (151)
2 GNOMAD ss4258839956 Apr 26, 2021 (155)
3 gnomAD - Genomes NC_000012.12 - 109483972 Apr 26, 2021 (155)
4 gnomAD - Exomes NC_000012.11 - 109921777 Jul 13, 2019 (153)
5 ALFA NC_000012.12 - 109483972 Apr 26, 2021 (155)
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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
9355892, ss2740117788 NC_000012.11:109921776:G:A NC_000012.12:109483971:G:A (self)
419045891, 2111004016, ss4258839956 NC_000012.12:109483971:G:C NC_000012.12:109483971: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 rs1475521028

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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