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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.

rs1475062281

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr5:93958921 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000004 (1/264690, TOPMED)
T=0.000007 (1/140038, GnomAD)
T=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FAM172A : Synonymous 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 14050 C=1.00000 T=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 C=1.000 T=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 C=1.000 T=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 C=1.000 T=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 C=1.000 T=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Sub 496 C=1.000 T=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
TopMed Global Study-wide 264690 C=0.999996 T=0.000004
gnomAD - Genomes Global Study-wide 140038 C=0.999993 T=0.000007
gnomAD - Genomes European Sub 75850 C=0.99999 T=0.00001
gnomAD - Genomes African Sub 41962 C=1.00000 T=0.00000
gnomAD - Genomes American Sub 13628 C=1.00000 T=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3134 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2142 C=1.0000 T=0.0000
Allele Frequency Aggregator Total Global 14050 C=1.00000 T=0.00000
Allele Frequency Aggregator European Sub 9690 C=1.0000 T=0.0000
Allele Frequency Aggregator African Sub 2898 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 T=0.000
Allele Frequency Aggregator Other Sub 496 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 T=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 5 NC_000005.10:g.93958921C>T
GRCh37.p13 chr 5 NC_000005.9:g.93294626C>T
Gene: FAM172A, family with sequence similarity 172 member A (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ARB2A transcript variant 3 NM_001163418.1:c.237+5537…

NM_001163418.1:c.237+5537G>A

 		N/A Intron Variant
ARB2A transcript variant 2 NM_001163417.1:c.285G>A E [GAG] > E [GAA] Coding Sequence Variant
cotranscriptional regulator ARB2A isoform 2 NP_001156889.1:p.Glu95= E (Glu) > E (Glu) Synonymous Variant
ARB2A transcript variant 1 NM_032042.6:c.423G>A E [GAG] > E [GAA] Coding Sequence Variant
cotranscriptional regulator ARB2A isoform 1 precursor NP_114431.2:p.Glu141= E (Glu) > E (Glu) Synonymous Variant
ARB2A transcript variant 4 NR_028080.1:n. N/A Intron Variant
ARB2A transcript variant X11 XM_005272105.5:c.375+5537…

XM_005272105.5:c.375+5537G>A

 		N/A Intron Variant
ARB2A transcript variant X30 XM_017009961.3:c.375+5537…

XM_017009961.3:c.375+5537G>A

 		N/A Intron Variant
ARB2A transcript variant X28 XM_047417820.1:c.126+5537…

XM_047417820.1:c.126+5537G>A

 		N/A Intron Variant
ARB2A transcript variant X1 XM_006714717.4:c.423G>A E [GAG] > E [GAA] Coding Sequence Variant
cotranscriptional regulator ARB2A isoform X1 XP_006714780.1:p.Glu141= E (Glu) > E (Glu) Synonymous Variant
ARB2A transcript variant X2 XM_017009953.2:c.357G>A E [GAG] > E [GAA] Coding Sequence Variant
cotranscriptional regulator ARB2A isoform X2 XP_016865442.1:p.Glu119= E (Glu) > E (Glu) Synonymous Variant
ARB2A transcript variant X3 XM_017009954.3:c.423G>A E [GAG] > E [GAA] Coding Sequence Variant
cotranscriptional regulator ARB2A isoform X3 XP_016865443.1:p.Glu141= E (Glu) > E (Glu) Synonymous Variant
ARB2A transcript variant X4 XM_005272103.5:c.423G>A E [GAG] > E [GAA] Coding Sequence Variant
cotranscriptional regulator ARB2A isoform X4 XP_005272160.1:p.Glu141= E (Glu) > E (Glu) Synonymous Variant
ARB2A transcript variant X5 XM_011543668.4:c.423G>A E [GAG] > E [GAA] Coding Sequence Variant
cotranscriptional regulator ARB2A isoform X5 XP_011541970.1:p.Glu141= E (Glu) > E (Glu) Synonymous Variant
ARB2A transcript variant X6 XM_011543670.4:c.423G>A E [GAG] > E [GAA] Coding Sequence Variant
cotranscriptional regulator ARB2A isoform X6 XP_011541972.1:p.Glu141= E (Glu) > E (Glu) Synonymous Variant
ARB2A transcript variant X7 XM_011543671.4:c.423G>A E [GAG] > E [GAA] Coding Sequence Variant
cotranscriptional regulator ARB2A isoform X7 XP_011541973.1:p.Glu141= E (Glu) > E (Glu) Synonymous Variant
ARB2A transcript variant X8 XM_047417810.1:c.285G>A E [GAG] > E [GAA] Coding Sequence Variant
cotranscriptional regulator ARB2A isoform X8 XP_047273766.1:p.Glu95= E (Glu) > E (Glu) Synonymous Variant
ARB2A transcript variant X9 XM_017009955.2:c.285G>A E [GAG] > E [GAA] Coding Sequence Variant
cotranscriptional regulator ARB2A isoform X8 XP_016865444.1:p.Glu95= E (Glu) > E (Glu) Synonymous Variant
ARB2A transcript variant X10 XM_047417811.1:c.423G>A E [GAG] > E [GAA] Coding Sequence Variant
cotranscriptional regulator ARB2A isoform X7 XP_047273767.1:p.Glu141= E (Glu) > E (Glu) Synonymous Variant
ARB2A transcript variant X13 XM_005272106.5:c.423G>A E [GAG] > E [GAA] Coding Sequence Variant
cotranscriptional regulator ARB2A isoform X10 XP_005272163.1:p.Glu141= E (Glu) > E (Glu) Synonymous Variant
ARB2A transcript variant X14 XM_047417812.1:c.285G>A E [GAG] > E [GAA] Coding Sequence Variant
cotranscriptional regulator ARB2A isoform X11 XP_047273768.1:p.Glu95= E (Glu) > E (Glu) Synonymous Variant
ARB2A transcript variant X15 XM_047417813.1:c.285G>A E [GAG] > E [GAA] Coding Sequence Variant
cotranscriptional regulator ARB2A isoform X12 XP_047273769.1:p.Glu95= E (Glu) > E (Glu) Synonymous Variant
ARB2A transcript variant X16 XM_047417814.1:c.174G>A E [GAG] > E [GAA] Coding Sequence Variant
cotranscriptional regulator ARB2A isoform X13 XP_047273770.1:p.Glu58= E (Glu) > E (Glu) Synonymous Variant
ARB2A transcript variant X17 XM_047417815.1:c.174G>A E [GAG] > E [GAA] Coding Sequence Variant
cotranscriptional regulator ARB2A isoform X13 XP_047273771.1:p.Glu58= E (Glu) > E (Glu) Synonymous Variant
ARB2A transcript variant X18 XM_017009957.2:c.174G>A E [GAG] > E [GAA] Coding Sequence Variant
cotranscriptional regulator ARB2A isoform X13 XP_016865446.1:p.Glu58= E (Glu) > E (Glu) Synonymous Variant
ARB2A transcript variant X19 XM_006714718.4:c.174G>A E [GAG] > E [GAA] Coding Sequence Variant
cotranscriptional regulator ARB2A isoform X13 XP_006714781.1:p.Glu58= E (Glu) > E (Glu) Synonymous Variant
ARB2A transcript variant X20 XM_017009958.2:c.174G>A E [GAG] > E [GAA] Coding Sequence Variant
cotranscriptional regulator ARB2A isoform X13 XP_016865447.1:p.Glu58= E (Glu) > E (Glu) Synonymous Variant
ARB2A transcript variant X21 XM_047417816.1:c.285G>A E [GAG] > E [GAA] Coding Sequence Variant
cotranscriptional regulator ARB2A isoform X14 XP_047273772.1:p.Glu95= E (Glu) > E (Glu) Synonymous Variant
ARB2A transcript variant X22 XM_047417817.1:c.423G>A E [GAG] > E [GAA] Coding Sequence Variant
cotranscriptional regulator ARB2A isoform X10 XP_047273773.1:p.Glu141= E (Glu) > E (Glu) Synonymous Variant
ARB2A transcript variant X23 XM_005272109.6:c.423G>A E [GAG] > E [GAA] Coding Sequence Variant
cotranscriptional regulator ARB2A isoform X15 XP_005272166.1:p.Glu141= E (Glu) > E (Glu) Synonymous Variant
ARB2A transcript variant X24 XM_047417818.1:c.357G>A E [GAG] > E [GAA] Coding Sequence Variant
cotranscriptional regulator ARB2A isoform X16 XP_047273774.1:p.Glu119= E (Glu) > E (Glu) Synonymous Variant
ARB2A transcript variant X25 XM_005272110.4:c.285G>A E [GAG] > E [GAA] Coding Sequence Variant
cotranscriptional regulator ARB2A isoform X17 XP_005272167.1:p.Glu95= E (Glu) > E (Glu) Synonymous Variant
ARB2A transcript variant X26 XM_047417819.1:c.285G>A E [GAG] > E [GAA] Coding Sequence Variant
cotranscriptional regulator ARB2A isoform X18 XP_047273775.1:p.Glu95= E (Glu) > E (Glu) Synonymous Variant
ARB2A transcript variant X27 XM_005272111.6:c.423G>A E [GAG] > E [GAA] Coding Sequence Variant
cotranscriptional regulator ARB2A isoform X19 XP_005272168.1:p.Glu141= E (Glu) > E (Glu) Synonymous Variant
ARB2A transcript variant X29 XM_047417822.1:c.423G>A E [GAG] > E [GAA] Coding Sequence Variant
cotranscriptional regulator ARB2A isoform X19 XP_047273778.1:p.Glu141= E (Glu) > E (Glu) Synonymous Variant
ARB2A transcript variant X31 XM_017009962.2:c.285G>A E [GAG] > E [GAA] Coding Sequence Variant
cotranscriptional regulator ARB2A isoform X22 XP_016865451.1:p.Glu95= E (Glu) > E (Glu) Synonymous Variant
ARB2A transcript variant X12 XR_007058646.1:n.630G>A N/A Non Coding Transcript 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 C= T
GRCh38.p14 chr 5 NC_000005.10:g.93958921= NC_000005.10:g.93958921C>T
GRCh37.p13 chr 5 NC_000005.9:g.93294626= NC_000005.9:g.93294626C>T
ARB2A transcript variant X27 XM_005272111.6:c.423= XM_005272111.6:c.423G>A
FAM172A transcript variant X24 XM_005272111.5:c.423= XM_005272111.5:c.423G>A
FAM172A transcript variant X24 XM_005272111.4:c.423= XM_005272111.4:c.423G>A
FAM172A transcript variant X18 XM_005272111.3:c.423= XM_005272111.3:c.423G>A
FAM172A transcript variant X9 XM_005272111.2:c.423= XM_005272111.2:c.423G>A
FAM172A transcript variant X9 XM_005272111.1:c.423= XM_005272111.1:c.423G>A
ARB2A transcript variant 1 NM_032042.6:c.423= NM_032042.6:c.423G>A
FAM172A transcript variant 1 NM_032042.5:c.423= NM_032042.5:c.423G>A
ARB2A transcript variant X23 XM_005272109.6:c.423= XM_005272109.6:c.423G>A
FAM172A transcript variant X21 XM_005272109.5:c.423= XM_005272109.5:c.423G>A
FAM172A transcript variant X21 XM_005272109.4:c.423= XM_005272109.4:c.423G>A
FAM172A transcript variant X15 XM_005272109.3:c.423= XM_005272109.3:c.423G>A
FAM172A transcript variant X7 XM_005272109.2:c.423= XM_005272109.2:c.423G>A
FAM172A transcript variant X7 XM_005272109.1:c.423= XM_005272109.1:c.423G>A
ARB2A transcript variant X13 XM_005272106.5:c.423= XM_005272106.5:c.423G>A
FAM172A transcript variant X13 XM_005272106.4:c.423= XM_005272106.4:c.423G>A
FAM172A transcript variant X13 XM_005272106.3:c.423= XM_005272106.3:c.423G>A
FAM172A transcript variant X9 XM_005272106.2:c.423= XM_005272106.2:c.423G>A
FAM172A transcript variant X4 XM_005272106.1:c.423= XM_005272106.1:c.423G>A
ARB2A transcript variant X4 XM_005272103.5:c.423= XM_005272103.5:c.423G>A
FAM172A transcript variant X5 XM_005272103.4:c.423= XM_005272103.4:c.423G>A
FAM172A transcript variant X5 XM_005272103.3:c.423= XM_005272103.3:c.423G>A
FAM172A transcript variant X2 XM_005272103.2:c.423= XM_005272103.2:c.423G>A
FAM172A transcript variant X1 XM_005272103.1:c.423= XM_005272103.1:c.423G>A
ARB2A transcript variant X7 XM_011543671.4:c.423= XM_011543671.4:c.423G>A
FAM172A transcript variant X8 XM_011543671.3:c.423= XM_011543671.3:c.423G>A
FAM172A transcript variant X8 XM_011543671.2:c.423= XM_011543671.2:c.423G>A
FAM172A transcript variant X6 XM_011543671.1:c.423= XM_011543671.1:c.423G>A
ARB2A transcript variant X19 XM_006714718.4:c.174= XM_006714718.4:c.174G>A
FAM172A transcript variant X18 XM_006714718.3:c.174= XM_006714718.3:c.174G>A
FAM172A transcript variant X13 XM_006714718.2:c.174= XM_006714718.2:c.174G>A
FAM172A transcript variant X11 XM_006714718.1:c.174= XM_006714718.1:c.174G>A
ARB2A transcript variant X1 XM_006714717.4:c.423= XM_006714717.4:c.423G>A
FAM172A transcript variant X1 XM_006714717.3:c.423= XM_006714717.3:c.423G>A
FAM172A transcript variant X1 XM_006714717.2:c.423= XM_006714717.2:c.423G>A
FAM172A transcript variant X10 XM_006714717.1:c.423= XM_006714717.1:c.423G>A
ARB2A transcript variant X25 XM_005272110.4:c.285= XM_005272110.4:c.285G>A
FAM172A transcript variant X23 XM_005272110.3:c.285= XM_005272110.3:c.285G>A
FAM172A transcript variant X17 XM_005272110.2:c.285= XM_005272110.2:c.285G>A
FAM172A transcript variant X8 XM_005272110.1:c.285= XM_005272110.1:c.285G>A
ARB2A transcript variant X5 XM_011543668.4:c.423= XM_011543668.4:c.423G>A
FAM172A transcript variant X6 XM_011543668.3:c.423= XM_011543668.3:c.423G>A
FAM172A transcript variant X6 XM_011543668.2:c.423= XM_011543668.2:c.423G>A
FAM172A transcript variant X3 XM_011543668.1:c.423= XM_011543668.1:c.423G>A
ARB2A transcript variant X6 XM_011543670.4:c.423= XM_011543670.4:c.423G>A
FAM172A transcript variant X7 XM_011543670.3:c.423= XM_011543670.3:c.423G>A
FAM172A transcript variant X7 XM_011543670.2:c.423= XM_011543670.2:c.423G>A
FAM172A transcript variant X5 XM_011543670.1:c.423= XM_011543670.1:c.423G>A
ARB2A transcript variant X3 XM_017009954.3:c.423= XM_017009954.3:c.423G>A
FAM172A transcript variant X4 XM_017009954.2:c.423= XM_017009954.2:c.423G>A
FAM172A transcript variant X4 XM_017009954.1:c.423= XM_017009954.1:c.423G>A
ARB2A transcript variant X31 XM_017009962.2:c.285= XM_017009962.2:c.285G>A
FAM172A transcript variant X29 XM_017009962.1:c.285= XM_017009962.1:c.285G>A
ARB2A transcript variant X9 XM_017009955.2:c.285= XM_017009955.2:c.285G>A
FAM172A transcript variant X10 XM_017009955.1:c.285= XM_017009955.1:c.285G>A
ARB2A transcript variant X2 XM_017009953.2:c.357= XM_017009953.2:c.357G>A
FAM172A transcript variant X3 XM_017009953.1:c.357= XM_017009953.1:c.357G>A
ARB2A transcript variant X18 XM_017009957.2:c.174= XM_017009957.2:c.174G>A
FAM172A transcript variant X17 XM_017009957.1:c.174= XM_017009957.1:c.174G>A
ARB2A transcript variant X20 XM_017009958.2:c.174= XM_017009958.2:c.174G>A
FAM172A transcript variant X19 XM_017009958.1:c.174= XM_017009958.1:c.174G>A
ARB2A transcript variant X10 XM_047417811.1:c.423= XM_047417811.1:c.423G>A
ARB2A transcript variant X29 XM_047417822.1:c.423= XM_047417822.1:c.423G>A
ARB2A transcript variant X24 XM_047417818.1:c.357= XM_047417818.1:c.357G>A
ARB2A transcript variant X8 XM_047417810.1:c.285= XM_047417810.1:c.285G>A
ARB2A transcript variant X22 XM_047417817.1:c.423= XM_047417817.1:c.423G>A
ARB2A transcript variant X16 XM_047417814.1:c.174= XM_047417814.1:c.174G>A
ARB2A transcript variant 2 NM_001163417.1:c.285= NM_001163417.1:c.285G>A
ARB2A transcript variant X17 XM_047417815.1:c.174= XM_047417815.1:c.174G>A
ARB2A transcript variant X15 XM_047417813.1:c.285= XM_047417813.1:c.285G>A
ARB2A transcript variant X21 XM_047417816.1:c.285= XM_047417816.1:c.285G>A
ARB2A transcript variant X14 XM_047417812.1:c.285= XM_047417812.1:c.285G>A
ARB2A transcript variant X12 XR_007058646.1:n.630= XR_007058646.1:n.630G>A
ARB2A transcript variant X26 XM_047417819.1:c.285= XM_047417819.1:c.285G>A
cotranscriptional regulator ARB2A isoform X19 XP_005272168.1:p.Glu141= XP_005272168.1:p.Glu141=
cotranscriptional regulator ARB2A isoform 1 precursor NP_114431.2:p.Glu141= NP_114431.2:p.Glu141=
cotranscriptional regulator ARB2A isoform X15 XP_005272166.1:p.Glu141= XP_005272166.1:p.Glu141=
cotranscriptional regulator ARB2A isoform X10 XP_005272163.1:p.Glu141= XP_005272163.1:p.Glu141=
cotranscriptional regulator ARB2A isoform X4 XP_005272160.1:p.Glu141= XP_005272160.1:p.Glu141=
cotranscriptional regulator ARB2A isoform X7 XP_011541973.1:p.Glu141= XP_011541973.1:p.Glu141=
cotranscriptional regulator ARB2A isoform X13 XP_006714781.1:p.Glu58= XP_006714781.1:p.Glu58=
cotranscriptional regulator ARB2A isoform X1 XP_006714780.1:p.Glu141= XP_006714780.1:p.Glu141=
cotranscriptional regulator ARB2A isoform X17 XP_005272167.1:p.Glu95= XP_005272167.1:p.Glu95=
cotranscriptional regulator ARB2A isoform X5 XP_011541970.1:p.Glu141= XP_011541970.1:p.Glu141=
cotranscriptional regulator ARB2A isoform X6 XP_011541972.1:p.Glu141= XP_011541972.1:p.Glu141=
cotranscriptional regulator ARB2A isoform X3 XP_016865443.1:p.Glu141= XP_016865443.1:p.Glu141=
cotranscriptional regulator ARB2A isoform X22 XP_016865451.1:p.Glu95= XP_016865451.1:p.Glu95=
cotranscriptional regulator ARB2A isoform X8 XP_016865444.1:p.Glu95= XP_016865444.1:p.Glu95=
cotranscriptional regulator ARB2A isoform X2 XP_016865442.1:p.Glu119= XP_016865442.1:p.Glu119=
cotranscriptional regulator ARB2A isoform X13 XP_016865446.1:p.Glu58= XP_016865446.1:p.Glu58=
cotranscriptional regulator ARB2A isoform X13 XP_016865447.1:p.Glu58= XP_016865447.1:p.Glu58=
cotranscriptional regulator ARB2A isoform X7 XP_047273767.1:p.Glu141= XP_047273767.1:p.Glu141=
cotranscriptional regulator ARB2A isoform X19 XP_047273778.1:p.Glu141= XP_047273778.1:p.Glu141=
cotranscriptional regulator ARB2A isoform X16 XP_047273774.1:p.Glu119= XP_047273774.1:p.Glu119=
cotranscriptional regulator ARB2A isoform X8 XP_047273766.1:p.Glu95= XP_047273766.1:p.Glu95=
cotranscriptional regulator ARB2A isoform X10 XP_047273773.1:p.Glu141= XP_047273773.1:p.Glu141=
cotranscriptional regulator ARB2A isoform X13 XP_047273770.1:p.Glu58= XP_047273770.1:p.Glu58=
cotranscriptional regulator ARB2A isoform 2 NP_001156889.1:p.Glu95= NP_001156889.1:p.Glu95=
cotranscriptional regulator ARB2A isoform X13 XP_047273771.1:p.Glu58= XP_047273771.1:p.Glu58=
cotranscriptional regulator ARB2A isoform X12 XP_047273769.1:p.Glu95= XP_047273769.1:p.Glu95=
cotranscriptional regulator ARB2A isoform X14 XP_047273772.1:p.Glu95= XP_047273772.1:p.Glu95=
cotranscriptional regulator ARB2A isoform X11 XP_047273768.1:p.Glu95= XP_047273768.1:p.Glu95=
cotranscriptional regulator ARB2A isoform X18 XP_047273775.1:p.Glu95= XP_047273775.1:p.Glu95=
ARB2A transcript variant 3 NM_001163418.1:c.237+5537= NM_001163418.1:c.237+5537G>A
FAM172A transcript variant X3 XM_005272105.1:c.375+5537= XM_005272105.1:c.375+5537G>A
ARB2A transcript variant X11 XM_005272105.5:c.375+5537= XM_005272105.5:c.375+5537G>A
FAM172A transcript variant X10 XM_005272112.1:c.126+5537= XM_005272112.1:c.126+5537G>A
ARB2A transcript variant X30 XM_017009961.3:c.375+5537= XM_017009961.3:c.375+5537G>A
ARB2A transcript variant X28 XM_047417820.1:c.126+5537= XM_047417820.1:c.126+5537G>A
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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 ss4108993798 Apr 26, 2021 (155)
2 TOPMED ss4668921622 Apr 26, 2021 (155)
3 gnomAD - Genomes NC_000005.10 - 93958921 Apr 26, 2021 (155)
4 TopMed NC_000005.10 - 93958921 Apr 26, 2021 (155)
5 ALFA NC_000005.10 - 93958921 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
196213215, 506299179, 3207447877, ss4108993798, ss4668921622 NC_000005.10:93958920:C:T NC_000005.10:93958920:C:T (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 rs1475062281

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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