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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.

rs1465825363

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr14:105226712 (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>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.00000 (0/14050, ALFA)
T=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
BRF1 : 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 14050 C=1.00000 G=0.00000, T=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 C=1.0000 G=0.0000, T=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 C=1.0000 G=0.0000, T=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 C=1.000 G=0.000, T=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 C=1.0000 G=0.0000, T=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 C=1.000 G=0.000, T=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 C=1.00 G=0.00, T=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 C=1.00 G=0.00, T=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 C=1.000 G=0.000, T=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 C=1.000 G=0.000, T=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 C=1.00 G=0.00, T=0.00 1.0 0.0 0.0 N/A
Other Sub 496 C=1.000 G=0.000, 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
Allele Frequency Aggregator Total Global 14050 C=1.00000 G=0.00000, T=0.00000
Allele Frequency Aggregator European Sub 9690 C=1.0000 G=0.0000, T=0.0000
Allele Frequency Aggregator African Sub 2898 C=1.0000 G=0.0000, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 G=0.000, T=0.000
Allele Frequency Aggregator Other Sub 496 C=1.000 G=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 G=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 G=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 G=0.00, 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 14 NC_000014.9:g.105226712C>G
GRCh38.p14 chr 14 NC_000014.9:g.105226712C>T
GRCh37.p13 chr 14 NC_000014.8:g.105693049C>G
GRCh37.p13 chr 14 NC_000014.8:g.105693049C>T
BRF1 RefSeqGene NG_029489.1:g.93866G>C
BRF1 RefSeqGene NG_029489.1:g.93866G>A
Gene: BRF1, BRF1 RNA polymerase III transcription initiation factor subunit (minus strand)
Molecule type Change Amino acid[Codon] SO Term
BRF1 transcript variant 8 NM_001242790.2:c. N/A Genic Downstream Transcript Variant
BRF1 transcript variant 1 NM_001519.4:c.837G>C E [GAG] > D [GAC] Coding Sequence Variant
transcription factor IIIB 90 kDa subunit isoform 1 NP_001510.2:p.Glu279Asp E (Glu) > D (Asp) Missense Variant
BRF1 transcript variant 1 NM_001519.4:c.837G>A E [GAG] > E [GAA] Coding Sequence Variant
transcription factor IIIB 90 kDa subunit isoform 1 NP_001510.2:p.Glu279= E (Glu) > E (Glu) Synonymous Variant
BRF1 transcript variant 6 NM_001242788.2:c.756G>C E [GAG] > D [GAC] Coding Sequence Variant
transcription factor IIIB 90 kDa subunit isoform 6 NP_001229717.1:p.Glu252Asp E (Glu) > D (Asp) Missense Variant
BRF1 transcript variant 6 NM_001242788.2:c.756G>A E [GAG] > E [GAA] Coding Sequence Variant
transcription factor IIIB 90 kDa subunit isoform 6 NP_001229717.1:p.Glu252= E (Glu) > E (Glu) Synonymous Variant
BRF1 transcript variant 7 NM_001242789.2:c.123G>C E [GAG] > D [GAC] Coding Sequence Variant
transcription factor IIIB 90 kDa subunit isoform 7 NP_001229718.1:p.Glu41Asp E (Glu) > D (Asp) Missense Variant
BRF1 transcript variant 7 NM_001242789.2:c.123G>A E [GAG] > E [GAA] Coding Sequence Variant
transcription factor IIIB 90 kDa subunit isoform 7 NP_001229718.1:p.Glu41= E (Glu) > E (Glu) Synonymous Variant
BRF1 transcript variant 3 NM_145685.3:c.225G>C E [GAG] > D [GAC] Coding Sequence Variant
transcription factor IIIB 90 kDa subunit isoform 3 NP_663718.1:p.Glu75Asp E (Glu) > D (Asp) Missense Variant
BRF1 transcript variant 3 NM_145685.3:c.225G>A E [GAG] > E [GAA] Coding Sequence Variant
transcription factor IIIB 90 kDa subunit isoform 3 NP_663718.1:p.Glu75= E (Glu) > E (Glu) Synonymous Variant
BRF1 transcript variant 5 NM_001242787.2:c.492G>C E [GAG] > D [GAC] Coding Sequence Variant
transcription factor IIIB 90 kDa subunit isoform 5 NP_001229716.1:p.Glu164Asp E (Glu) > D (Asp) Missense Variant
BRF1 transcript variant 5 NM_001242787.2:c.492G>A E [GAG] > E [GAA] Coding Sequence Variant
transcription factor IIIB 90 kDa subunit isoform 5 NP_001229716.1:p.Glu164= E (Glu) > E (Glu) Synonymous Variant
BRF1 transcript variant 4 NM_001242786.2:c.492G>C E [GAG] > D [GAC] Coding Sequence Variant
transcription factor IIIB 90 kDa subunit isoform 4 NP_001229715.1:p.Glu164Asp E (Glu) > D (Asp) Missense Variant
BRF1 transcript variant 4 NM_001242786.2:c.492G>A E [GAG] > E [GAA] Coding Sequence Variant
transcription factor IIIB 90 kDa subunit isoform 4 NP_001229715.1:p.Glu164= E (Glu) > E (Glu) Synonymous Variant
BRF1 transcript variant X14 XM_047431311.1:c.-4= N/A 5 Prime UTR Variant
BRF1 transcript variant X1 XM_005267561.5:c.837G>C E [GAG] > D [GAC] Coding Sequence Variant
transcription factor IIIB 90 kDa subunit isoform X1 XP_005267618.1:p.Glu279Asp E (Glu) > D (Asp) Missense Variant
BRF1 transcript variant X1 XM_005267561.5:c.837G>A E [GAG] > E [GAA] Coding Sequence Variant
transcription factor IIIB 90 kDa subunit isoform X1 XP_005267618.1:p.Glu279= E (Glu) > E (Glu) Synonymous Variant
BRF1 transcript variant X2 XM_011536672.4:c.837G>C E [GAG] > D [GAC] Coding Sequence Variant
transcription factor IIIB 90 kDa subunit isoform X2 XP_011534974.1:p.Glu279Asp E (Glu) > D (Asp) Missense Variant
BRF1 transcript variant X2 XM_011536672.4:c.837G>A E [GAG] > E [GAA] Coding Sequence Variant
transcription factor IIIB 90 kDa subunit isoform X2 XP_011534974.1:p.Glu279= E (Glu) > E (Glu) Synonymous Variant
BRF1 transcript variant X3 XM_011536673.3:c.687G>C E [GAG] > D [GAC] Coding Sequence Variant
transcription factor IIIB 90 kDa subunit isoform X3 XP_011534975.1:p.Glu229Asp E (Glu) > D (Asp) Missense Variant
BRF1 transcript variant X3 XM_011536673.3:c.687G>A E [GAG] > E [GAA] Coding Sequence Variant
transcription factor IIIB 90 kDa subunit isoform X3 XP_011534975.1:p.Glu229= E (Glu) > E (Glu) Synonymous Variant
BRF1 transcript variant X4 XM_047431302.1:c.687G>C E [GAG] > D [GAC] Coding Sequence Variant
transcription factor IIIB 90 kDa subunit isoform X4 XP_047287258.1:p.Glu229Asp E (Glu) > D (Asp) Missense Variant
BRF1 transcript variant X4 XM_047431302.1:c.687G>A E [GAG] > E [GAA] Coding Sequence Variant
transcription factor IIIB 90 kDa subunit isoform X4 XP_047287258.1:p.Glu229= E (Glu) > E (Glu) Synonymous Variant
BRF1 transcript variant X5 XM_047431303.1:c.345G>C E [GAG] > D [GAC] Coding Sequence Variant
transcription factor IIIB 90 kDa subunit isoform X5 XP_047287259.1:p.Glu115Asp E (Glu) > D (Asp) Missense Variant
BRF1 transcript variant X5 XM_047431303.1:c.345G>A E [GAG] > E [GAA] Coding Sequence Variant
transcription factor IIIB 90 kDa subunit isoform X5 XP_047287259.1:p.Glu115= E (Glu) > E (Glu) Synonymous Variant
BRF1 transcript variant X6 XM_047431304.1:c.342G>C E [GAG] > D [GAC] Coding Sequence Variant
transcription factor IIIB 90 kDa subunit isoform X6 XP_047287260.1:p.Glu114Asp E (Glu) > D (Asp) Missense Variant
BRF1 transcript variant X6 XM_047431304.1:c.342G>A E [GAG] > E [GAA] Coding Sequence Variant
transcription factor IIIB 90 kDa subunit isoform X6 XP_047287260.1:p.Glu114= E (Glu) > E (Glu) Synonymous Variant
BRF1 transcript variant X7 XM_047431305.1:c.342G>C E [GAG] > D [GAC] Coding Sequence Variant
transcription factor IIIB 90 kDa subunit isoform X7 XP_047287261.1:p.Glu114Asp E (Glu) > D (Asp) Missense Variant
BRF1 transcript variant X7 XM_047431305.1:c.342G>A E [GAG] > E [GAA] Coding Sequence Variant
transcription factor IIIB 90 kDa subunit isoform X7 XP_047287261.1:p.Glu114= E (Glu) > E (Glu) Synonymous Variant
BRF1 transcript variant X8 XM_047431306.1:c.324G>C E [GAG] > D [GAC] Coding Sequence Variant
transcription factor IIIB 90 kDa subunit isoform X8 XP_047287262.1:p.Glu108Asp E (Glu) > D (Asp) Missense Variant
BRF1 transcript variant X8 XM_047431306.1:c.324G>A E [GAG] > E [GAA] Coding Sequence Variant
transcription factor IIIB 90 kDa subunit isoform X8 XP_047287262.1:p.Glu108= E (Glu) > E (Glu) Synonymous Variant
BRF1 transcript variant X9 XM_047431307.1:c.324G>C E [GAG] > D [GAC] Coding Sequence Variant
transcription factor IIIB 90 kDa subunit isoform X9 XP_047287263.1:p.Glu108Asp E (Glu) > D (Asp) Missense Variant
BRF1 transcript variant X9 XM_047431307.1:c.324G>A E [GAG] > E [GAA] Coding Sequence Variant
transcription factor IIIB 90 kDa subunit isoform X9 XP_047287263.1:p.Glu108= E (Glu) > E (Glu) Synonymous Variant
BRF1 transcript variant X10 XM_005267563.5:c.225G>C E [GAG] > D [GAC] Coding Sequence Variant
transcription factor IIIB 90 kDa subunit isoform X10 XP_005267620.1:p.Glu75Asp E (Glu) > D (Asp) Missense Variant
BRF1 transcript variant X10 XM_005267563.5:c.225G>A E [GAG] > E [GAA] Coding Sequence Variant
transcription factor IIIB 90 kDa subunit isoform X10 XP_005267620.1:p.Glu75= E (Glu) > E (Glu) Synonymous Variant
BRF1 transcript variant X11 XM_047431308.1:c.174G>C E [GAG] > D [GAC] Coding Sequence Variant
transcription factor IIIB 90 kDa subunit isoform X11 XP_047287264.1:p.Glu58Asp E (Glu) > D (Asp) Missense Variant
BRF1 transcript variant X11 XM_047431308.1:c.174G>A E [GAG] > E [GAA] Coding Sequence Variant
transcription factor IIIB 90 kDa subunit isoform X11 XP_047287264.1:p.Glu58= E (Glu) > E (Glu) Synonymous Variant
BRF1 transcript variant X12 XM_047431310.1:c.174G>C E [GAG] > D [GAC] Coding Sequence Variant
transcription factor IIIB 90 kDa subunit isoform X12 XP_047287266.1:p.Glu58Asp E (Glu) > D (Asp) Missense Variant
BRF1 transcript variant X12 XM_047431310.1:c.174G>A E [GAG] > E [GAA] Coding Sequence Variant
transcription factor IIIB 90 kDa subunit isoform X12 XP_047287266.1:p.Glu58= E (Glu) > E (Glu) Synonymous Variant
BRF1 transcript variant X13 XM_024449553.2:c.123G>C E [GAG] > D [GAC] Coding Sequence Variant
transcription factor IIIB 90 kDa subunit isoform X13 XP_024305321.1:p.Glu41Asp E (Glu) > D (Asp) Missense Variant
BRF1 transcript variant X13 XM_024449553.2:c.123G>A E [GAG] > E [GAA] Coding Sequence Variant
transcription factor IIIB 90 kDa subunit isoform X13 XP_024305321.1:p.Glu41= E (Glu) > E (Glu) 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.

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= G T
GRCh38.p14 chr 14 NC_000014.9:g.105226712= NC_000014.9:g.105226712C>G NC_000014.9:g.105226712C>T
GRCh37.p13 chr 14 NC_000014.8:g.105693049= NC_000014.8:g.105693049C>G NC_000014.8:g.105693049C>T
BRF1 RefSeqGene NG_029489.1:g.93866= NG_029489.1:g.93866G>C NG_029489.1:g.93866G>A
BRF1 transcript variant 1 NM_001519.4:c.837= NM_001519.4:c.837G>C NM_001519.4:c.837G>A
BRF1 transcript variant 1 NM_001519.3:c.837= NM_001519.3:c.837G>C NM_001519.3:c.837G>A
BRF1 transcript variant 3 NM_145685.3:c.225= NM_145685.3:c.225G>C NM_145685.3:c.225G>A
BRF1 transcript variant 3 NM_145685.2:c.225= NM_145685.2:c.225G>C NM_145685.2:c.225G>A
BRF1 transcript variant 6 NM_001242788.2:c.756= NM_001242788.2:c.756G>C NM_001242788.2:c.756G>A
BRF1 transcript variant 6 NM_001242788.1:c.756= NM_001242788.1:c.756G>C NM_001242788.1:c.756G>A
BRF1 transcript variant 4 NM_001242786.2:c.492= NM_001242786.2:c.492G>C NM_001242786.2:c.492G>A
BRF1 transcript variant 4 NM_001242786.1:c.492= NM_001242786.1:c.492G>C NM_001242786.1:c.492G>A
BRF1 transcript variant 5 NM_001242787.2:c.492= NM_001242787.2:c.492G>C NM_001242787.2:c.492G>A
BRF1 transcript variant 5 NM_001242787.1:c.492= NM_001242787.1:c.492G>C NM_001242787.1:c.492G>A
BRF1 transcript variant 7 NM_001242789.2:c.123= NM_001242789.2:c.123G>C NM_001242789.2:c.123G>A
BRF1 transcript variant 7 NM_001242789.1:c.123= NM_001242789.1:c.123G>C NM_001242789.1:c.123G>A
BRF1 transcript variant X1 XM_005267561.5:c.837= XM_005267561.5:c.837G>C XM_005267561.5:c.837G>A
BRF1 transcript variant X1 XM_005267561.4:c.837= XM_005267561.4:c.837G>C XM_005267561.4:c.837G>A
BRF1 transcript variant X1 XM_005267561.3:c.837= XM_005267561.3:c.837G>C XM_005267561.3:c.837G>A
BRF1 transcript variant X2 XM_005267561.2:c.837= XM_005267561.2:c.837G>C XM_005267561.2:c.837G>A
BRF1 transcript variant X2 XM_005267561.1:c.837= XM_005267561.1:c.837G>C XM_005267561.1:c.837G>A
BRF1 transcript variant X10 XM_005267563.5:c.225= XM_005267563.5:c.225G>C XM_005267563.5:c.225G>A
BRF1 transcript variant X4 XM_005267563.4:c.225= XM_005267563.4:c.225G>C XM_005267563.4:c.225G>A
BRF1 transcript variant X5 XM_005267563.3:c.225= XM_005267563.3:c.225G>C XM_005267563.3:c.225G>A
BRF1 transcript variant X5 XM_005267563.2:c.225= XM_005267563.2:c.225G>C XM_005267563.2:c.225G>A
BRF1 transcript variant X4 XM_005267563.1:c.225= XM_005267563.1:c.225G>C XM_005267563.1:c.225G>A
BRF1 transcript variant X2 XM_011536672.4:c.837= XM_011536672.4:c.837G>C XM_011536672.4:c.837G>A
BRF1 transcript variant X2 XM_011536672.3:c.837= XM_011536672.3:c.837G>C XM_011536672.3:c.837G>A
BRF1 transcript variant X2 XM_011536672.2:c.837= XM_011536672.2:c.837G>C XM_011536672.2:c.837G>A
BRF1 transcript variant X2 XM_011536672.1:c.837= XM_011536672.1:c.837G>C XM_011536672.1:c.837G>A
BRF1 transcript variant X3 XM_011536673.3:c.687= XM_011536673.3:c.687G>C XM_011536673.3:c.687G>A
BRF1 transcript variant X3 XM_011536673.2:c.687= XM_011536673.2:c.687G>C XM_011536673.2:c.687G>A
BRF1 transcript variant X3 XM_011536673.1:c.687= XM_011536673.1:c.687G>C XM_011536673.1:c.687G>A
BRF1 transcript variant X13 XM_024449553.2:c.123= XM_024449553.2:c.123G>C XM_024449553.2:c.123G>A
BRF1 transcript variant X5 XM_024449553.1:c.123= XM_024449553.1:c.123G>C XM_024449553.1:c.123G>A
BRF1 transcript variant X8 XM_047431306.1:c.324= XM_047431306.1:c.324G>C XM_047431306.1:c.324G>A
BRF1 transcript variant X9 XM_047431307.1:c.324= XM_047431307.1:c.324G>C XM_047431307.1:c.324G>A
BRF1 transcript variant X11 XM_047431308.1:c.174= XM_047431308.1:c.174G>C XM_047431308.1:c.174G>A
BRF1 transcript variant X12 XM_047431310.1:c.174= XM_047431310.1:c.174G>C XM_047431310.1:c.174G>A
BRF1 transcript variant X4 XM_047431302.1:c.687= XM_047431302.1:c.687G>C XM_047431302.1:c.687G>A
BRF1 transcript variant X6 XM_047431304.1:c.342= XM_047431304.1:c.342G>C XM_047431304.1:c.342G>A
BRF1 transcript variant X7 XM_047431305.1:c.342= XM_047431305.1:c.342G>C XM_047431305.1:c.342G>A
BRF1 transcript variant X5 XM_047431303.1:c.345= XM_047431303.1:c.345G>C XM_047431303.1:c.345G>A
BRF1 transcript variant X14 XM_047431311.1:c.-4= XM_047431311.1:c.-4G>C XM_047431311.1:c.-4G>A
BRF1 transcript variant 2 NM_145696.1:c.225= NM_145696.1:c.225G>C NM_145696.1:c.225G>A
transcription factor IIIB 90 kDa subunit isoform 1 NP_001510.2:p.Glu279= NP_001510.2:p.Glu279Asp NP_001510.2:p.Glu279=
transcription factor IIIB 90 kDa subunit isoform 3 NP_663718.1:p.Glu75= NP_663718.1:p.Glu75Asp NP_663718.1:p.Glu75=
transcription factor IIIB 90 kDa subunit isoform 6 NP_001229717.1:p.Glu252= NP_001229717.1:p.Glu252Asp NP_001229717.1:p.Glu252=
transcription factor IIIB 90 kDa subunit isoform 4 NP_001229715.1:p.Glu164= NP_001229715.1:p.Glu164Asp NP_001229715.1:p.Glu164=
transcription factor IIIB 90 kDa subunit isoform 5 NP_001229716.1:p.Glu164= NP_001229716.1:p.Glu164Asp NP_001229716.1:p.Glu164=
transcription factor IIIB 90 kDa subunit isoform 7 NP_001229718.1:p.Glu41= NP_001229718.1:p.Glu41Asp NP_001229718.1:p.Glu41=
transcription factor IIIB 90 kDa subunit isoform X1 XP_005267618.1:p.Glu279= XP_005267618.1:p.Glu279Asp XP_005267618.1:p.Glu279=
transcription factor IIIB 90 kDa subunit isoform X10 XP_005267620.1:p.Glu75= XP_005267620.1:p.Glu75Asp XP_005267620.1:p.Glu75=
transcription factor IIIB 90 kDa subunit isoform X2 XP_011534974.1:p.Glu279= XP_011534974.1:p.Glu279Asp XP_011534974.1:p.Glu279=
transcription factor IIIB 90 kDa subunit isoform X3 XP_011534975.1:p.Glu229= XP_011534975.1:p.Glu229Asp XP_011534975.1:p.Glu229=
transcription factor IIIB 90 kDa subunit isoform X13 XP_024305321.1:p.Glu41= XP_024305321.1:p.Glu41Asp XP_024305321.1:p.Glu41=
transcription factor IIIB 90 kDa subunit isoform X8 XP_047287262.1:p.Glu108= XP_047287262.1:p.Glu108Asp XP_047287262.1:p.Glu108=
transcription factor IIIB 90 kDa subunit isoform X9 XP_047287263.1:p.Glu108= XP_047287263.1:p.Glu108Asp XP_047287263.1:p.Glu108=
transcription factor IIIB 90 kDa subunit isoform X11 XP_047287264.1:p.Glu58= XP_047287264.1:p.Glu58Asp XP_047287264.1:p.Glu58=
transcription factor IIIB 90 kDa subunit isoform X12 XP_047287266.1:p.Glu58= XP_047287266.1:p.Glu58Asp XP_047287266.1:p.Glu58=
transcription factor IIIB 90 kDa subunit isoform X4 XP_047287258.1:p.Glu229= XP_047287258.1:p.Glu229Asp XP_047287258.1:p.Glu229=
transcription factor IIIB 90 kDa subunit isoform X6 XP_047287260.1:p.Glu114= XP_047287260.1:p.Glu114Asp XP_047287260.1:p.Glu114=
transcription factor IIIB 90 kDa subunit isoform X7 XP_047287261.1:p.Glu114= XP_047287261.1:p.Glu114Asp XP_047287261.1:p.Glu114=
transcription factor IIIB 90 kDa subunit isoform X5 XP_047287259.1:p.Glu115= XP_047287259.1:p.Glu115Asp XP_047287259.1:p.Glu115=
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#.

4 SubSNP, 5 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss4284627627 Apr 26, 2021 (155)
2 GNOMAD ss4284627628 Apr 26, 2021 (155)
3 TOPMED ss4983786158 Apr 26, 2021 (155)
4 TOPMED ss4983786159 Apr 26, 2021 (155)
5 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 462245478 (NC_000014.9:105226711:C:G 1/140296)
Row 462245479 (NC_000014.9:105226711:C:T 1/140296)

- Apr 26, 2021 (155)
6 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 462245478 (NC_000014.9:105226711:C:G 1/140296)
Row 462245479 (NC_000014.9:105226711:C:T 1/140296)

- Apr 26, 2021 (155)
7 TopMed

Submission ignored due to conflicting rows:
Row 199331817 (NC_000014.9:105226711:C:G 1/264690)
Row 199331818 (NC_000014.9:105226711:C:T 1/264690)

- Apr 26, 2021 (155)
8 TopMed

Submission ignored due to conflicting rows:
Row 199331817 (NC_000014.9:105226711:C:G 1/264690)
Row 199331818 (NC_000014.9:105226711:C:T 1/264690)

- Apr 26, 2021 (155)
9 ALFA NC_000014.9 - 105226712 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
502569748, ss4284627627, ss4983786158 NC_000014.9:105226711:C:G NC_000014.9:105226711:C:G (self)
502569748, ss4284627628, ss4983786159 NC_000014.9:105226711:C:T NC_000014.9:105226711:C:T (self)
Help

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

No publications for rs1465825363

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top▲ Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post820+afb47a3d