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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.

rs775709527

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr19:42096166 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000038 (10/264690, TOPMED)
T=0.000049 (12/245756, GnomAD_exome)
T=0.000029 (4/140220, GnomAD) (+ 2 more)
T=0.000052 (6/115436, ExAC)
T=0.00007 (3/44414, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
POU2F2 : 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 60758 G=0.99993 T=0.00007
European Sub 42728 G=0.99993 T=0.00007
African Sub 8344 G=1.0000 T=0.0000
African Others Sub 306 G=1.000 T=0.000
African American Sub 8038 G=1.0000 T=0.0000
Asian Sub 168 G=1.000 T=0.000
East Asian Sub 112 G=1.000 T=0.000
Other Asian Sub 56 G=1.00 T=0.00
Latin American 1 Sub 500 G=1.000 T=0.000
Latin American 2 Sub 628 G=1.000 T=0.000
South Asian Sub 98 G=1.00 T=0.00
Other Sub 8292 G=0.9999 T=0.0001


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 G=0.999962 T=0.000038
gnomAD - Exomes Global Study-wide 245756 G=0.999951 T=0.000049
gnomAD - Exomes European Sub 130558 G=0.999908 T=0.000092
gnomAD - Exomes Asian Sub 48860 G=1.00000 T=0.00000
gnomAD - Exomes American Sub 34418 G=1.00000 T=0.00000
gnomAD - Exomes African Sub 15998 G=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 9916 G=1.0000 T=0.0000
gnomAD - Exomes Other Sub 6006 G=1.0000 T=0.0000
gnomAD - Genomes Global Study-wide 140220 G=0.999971 T=0.000029
gnomAD - Genomes European Sub 75926 G=0.99997 T=0.00003
gnomAD - Genomes African Sub 42034 G=1.00000 T=0.00000
gnomAD - Genomes American Sub 13652 G=0.99985 T=0.00015
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3134 G=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2150 G=1.0000 T=0.0000
ExAC Global Study-wide 115436 G=0.999948 T=0.000052
ExAC Europe Sub 69664 G=0.99991 T=0.00009
ExAC Asian Sub 24310 G=1.00000 T=0.00000
ExAC American Sub 11104 G=1.00000 T=0.00000
ExAC African Sub 9520 G=1.0000 T=0.0000
ExAC Other Sub 838 G=1.000 T=0.000
Allele Frequency Aggregator Total Global 44414 G=0.99993 T=0.00007
Allele Frequency Aggregator European Sub 32648 G=0.99994 T=0.00006
Allele Frequency Aggregator Other Sub 6860 G=0.9999 T=0.0001
Allele Frequency Aggregator African Sub 3512 G=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 628 G=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 500 G=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 168 G=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 98 G=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 19 NC_000019.10:g.42096166G>T
GRCh37.p13 chr 19 NC_000019.9:g.42600318G>T
POU2F2 RefSeqGene NG_030365.1:g.41308C>A
Gene: POU2F2, POU class 2 homeobox 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
POU2F2 transcript variant 1 NM_001207025.4:c.579C>A H [CAC] > Q [CAA] Coding Sequence Variant
POU domain, class 2, transcription factor 2 isoform 1 NP_001193954.1:p.His193Gln H (His) > Q (Gln) Missense Variant
POU2F2 transcript variant 3 NM_001207026.3:c.579C>A H [CAC] > Q [CAA] Coding Sequence Variant
POU domain, class 2, transcription factor 2 isoform 3 NP_001193955.1:p.His193Gln H (His) > Q (Gln) Missense Variant
POU2F2 transcript variant 4 NM_001247994.3:c.531C>A H [CAC] > Q [CAA] Coding Sequence Variant
POU domain, class 2, transcription factor 2 isoform 4 NP_001234923.1:p.His177Gln H (His) > Q (Gln) Missense Variant
POU2F2 transcript variant 6 NM_001393935.1:c.597C>A H [CAC] > Q [CAA] Coding Sequence Variant
POU domain, class 2, transcription factor 2 isoform 6 NP_001380864.1:p.His199Gln H (His) > Q (Gln) Missense Variant
POU2F2 transcript variant 7 NM_001393936.1:c.531C>A H [CAC] > Q [CAA] Coding Sequence Variant
POU domain, class 2, transcription factor 2 isoform 7 NP_001380865.1:p.His177Gln H (His) > Q (Gln) Missense Variant
POU2F2 transcript variant 2 NM_002698.6:c.531C>A H [CAC] > Q [CAA] Coding Sequence Variant
POU domain, class 2, transcription factor 2 isoform 2 NP_002689.1:p.His177Gln H (His) > Q (Gln) Missense Variant
POU2F2 transcript variant 5 NM_001393934.1:c.858C>A H [CAC] > Q [CAA] Coding Sequence Variant
POU domain, class 2, transcription factor 2 isoform 5 NP_001380863.1:p.His286Gln H (His) > Q (Gln) Missense Variant
POU2F2 transcript variant 9 NM_001394377.1:c.876C>A H [CAC] > Q [CAA] Coding Sequence Variant
POU domain, class 2, transcription factor 2 isoform 9 NP_001381306.1:p.His292Gln H (His) > Q (Gln) Missense Variant
POU2F2 transcript variant 10 NM_001394378.1:c.828C>A H [CAC] > Q [CAA] Coding Sequence Variant
POU domain, class 2, transcription factor 2 isoform 10 NP_001381307.1:p.His276Gln H (His) > Q (Gln) Missense Variant
POU2F2 transcript variant 8 NM_001394376.1:c.645C>A H [CAC] > Q [CAA] Coding Sequence Variant
POU domain, class 2, transcription factor 2 isoform 8 NP_001381305.1:p.His215Gln H (His) > Q (Gln) Missense Variant
POU2F2 transcript variant X21 XM_047438968.1:c.-103= N/A 5 Prime UTR Variant
POU2F2 transcript variant X1 XM_047438953.1:c.876C>A H [CAC] > Q [CAA] Coding Sequence Variant
POU domain, class 2, transcription factor 2 isoform X1 XP_047294909.1:p.His292Gln H (His) > Q (Gln) Missense Variant
POU2F2 transcript variant X2 XM_017026891.3:c.894C>A H [CAC] > Q [CAA] Coding Sequence Variant
POU domain, class 2, transcription factor 2 isoform X2 XP_016882380.1:p.His298Gln H (His) > Q (Gln) Missense Variant
POU2F2 transcript variant X3 XM_017026892.3:c.876C>A H [CAC] > Q [CAA] Coding Sequence Variant
POU domain, class 2, transcription factor 2 isoform X3 XP_016882381.1:p.His292Gln H (His) > Q (Gln) Missense Variant
POU2F2 transcript variant X4 XM_047438954.1:c.858C>A H [CAC] > Q [CAA] Coding Sequence Variant
POU domain, class 2, transcription factor 2 isoform X4 XP_047294910.1:p.His286Gln H (His) > Q (Gln) Missense Variant
POU2F2 transcript variant X5 XM_047438955.1:c.858C>A H [CAC] > Q [CAA] Coding Sequence Variant
POU domain, class 2, transcription factor 2 isoform X4 XP_047294911.1:p.His286Gln H (His) > Q (Gln) Missense Variant
POU2F2 transcript variant X6 XM_047438956.1:c.858C>A H [CAC] > Q [CAA] Coding Sequence Variant
POU domain, class 2, transcription factor 2 isoform X4 XP_047294912.1:p.His286Gln H (His) > Q (Gln) Missense Variant
POU2F2 transcript variant X7 XM_047438957.1:c.828C>A H [CAC] > Q [CAA] Coding Sequence Variant
POU domain, class 2, transcription factor 2 isoform X5 XP_047294913.1:p.His276Gln H (His) > Q (Gln) Missense Variant
POU2F2 transcript variant X8 XM_047438958.1:c.645C>A H [CAC] > Q [CAA] Coding Sequence Variant
POU domain, class 2, transcription factor 2 isoform X6 XP_047294914.1:p.His215Gln H (His) > Q (Gln) Missense Variant
POU2F2 transcript variant X9 XM_047438959.1:c.597C>A H [CAC] > Q [CAA] Coding Sequence Variant
POU domain, class 2, transcription factor 2 isoform X7 XP_047294915.1:p.His199Gln H (His) > Q (Gln) Missense Variant
POU2F2 transcript variant X10 XM_047438960.1:c.579C>A H [CAC] > Q [CAA] Coding Sequence Variant
POU domain, class 2, transcription factor 2 isoform X8 XP_047294916.1:p.His193Gln H (His) > Q (Gln) Missense Variant
POU2F2 transcript variant X11 XM_047438961.1:c.543C>A H [CAC] > Q [CAA] Coding Sequence Variant
POU domain, class 2, transcription factor 2 isoform X9 XP_047294917.1:p.His181Gln H (His) > Q (Gln) Missense Variant
POU2F2 transcript variant X12 XM_047438962.1:c.543C>A H [CAC] > Q [CAA] Coding Sequence Variant
POU domain, class 2, transcription factor 2 isoform X9 XP_047294918.1:p.His181Gln H (His) > Q (Gln) Missense Variant
POU2F2 transcript variant X13 XM_047438963.1:c.531C>A H [CAC] > Q [CAA] Coding Sequence Variant
POU domain, class 2, transcription factor 2 isoform X10 XP_047294919.1:p.His177Gln H (His) > Q (Gln) Missense Variant
POU2F2 transcript variant X14 XM_047438964.1:c.531C>A H [CAC] > Q [CAA] Coding Sequence Variant
POU domain, class 2, transcription factor 2 isoform X11 XP_047294920.1:p.His177Gln H (His) > Q (Gln) Missense Variant
POU2F2 transcript variant X15 XM_017026894.3:c.579C>A H [CAC] > Q [CAA] Coding Sequence Variant
POU domain, class 2, transcription factor 2 isoform X12 XP_016882383.1:p.His193Gln H (His) > Q (Gln) Missense Variant
POU2F2 transcript variant X16 XM_047438965.1:c.561C>A H [CAC] > Q [CAA] Coding Sequence Variant
POU domain, class 2, transcription factor 2 isoform X13 XP_047294921.1:p.His187Gln H (His) > Q (Gln) Missense Variant
POU2F2 transcript variant X17 XM_047438966.1:c.495C>A H [CAC] > Q [CAA] Coding Sequence Variant
POU domain, class 2, transcription factor 2 isoform X14 XP_047294922.1:p.His165Gln H (His) > Q (Gln) Missense Variant
POU2F2 transcript variant X18 XM_011527041.4:c.645C>A H [CAC] > Q [CAA] Coding Sequence Variant
POU domain, class 2, transcription factor 2 isoform X15 XP_011525343.1:p.His215Gln H (His) > Q (Gln) Missense Variant
POU2F2 transcript variant X19 XM_011527042.4:c.597C>A H [CAC] > Q [CAA] Coding Sequence Variant
POU domain, class 2, transcription factor 2 isoform X16 XP_011525344.1:p.His199Gln H (His) > Q (Gln) Missense Variant
POU2F2 transcript variant X20 XM_047438967.1:c.645C>A H [CAC] > Q [CAA] Coding Sequence Variant
POU domain, class 2, transcription factor 2 isoform X17 XP_047294923.1:p.His215Gln H (His) > Q (Gln) 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= T
GRCh38.p14 chr 19 NC_000019.10:g.42096166= NC_000019.10:g.42096166G>T
GRCh37.p13 chr 19 NC_000019.9:g.42600318= NC_000019.9:g.42600318G>T
POU2F2 RefSeqGene NG_030365.1:g.41308= NG_030365.1:g.41308C>A
POU2F2 transcript variant 2 NM_002698.6:c.531= NM_002698.6:c.531C>A
POU2F2 transcript variant 2 NM_002698.5:c.531= NM_002698.5:c.531C>A
POU2F2 transcript variant 2 NM_002698.4:c.531= NM_002698.4:c.531C>A
POU2F2 transcript variant 1 NM_001207025.4:c.579= NM_001207025.4:c.579C>A
POU2F2 transcript variant 1 NM_001207025.3:c.579= NM_001207025.3:c.579C>A
POU2F2 transcript variant 1 NM_001207025.2:c.579= NM_001207025.2:c.579C>A
POU2F2 transcript variant 3 NM_001207026.3:c.579= NM_001207026.3:c.579C>A
POU2F2 transcript variant 3 NM_001207026.2:c.579= NM_001207026.2:c.579C>A
POU2F2 transcript variant 3 NM_001207026.1:c.579= NM_001207026.1:c.579C>A
POU2F2 transcript variant 4 NM_001247994.3:c.531= NM_001247994.3:c.531C>A
POU2F2 transcript variant 4 NM_001247994.2:c.531= NM_001247994.2:c.531C>A
POU2F2 transcript variant 4 NM_001247994.1:c.531= NM_001247994.1:c.531C>A
POU2F2 transcript variant 5 NM_001393934.1:c.858= NM_001393934.1:c.858C>A
POU2F2 transcript variant 9 NM_001394377.1:c.876= NM_001394377.1:c.876C>A
POU2F2 transcript variant 10 NM_001394378.1:c.828= NM_001394378.1:c.828C>A
POU2F2 transcript variant 8 NM_001394376.1:c.645= NM_001394376.1:c.645C>A
POU2F2 transcript variant 6 NM_001393935.1:c.597= NM_001393935.1:c.597C>A
POU2F2 transcript variant 7 NM_001393936.1:c.531= NM_001393936.1:c.531C>A
POU2F2 transcript variant X18 XM_011527041.4:c.645= XM_011527041.4:c.645C>A
POU2F2 transcript variant X21 XM_011527041.3:c.645= XM_011527041.3:c.645C>A
POU2F2 transcript variant X18 XM_011527041.2:c.645= XM_011527041.2:c.645C>A
POU2F2 transcript variant X3 XM_011527041.1:c.645= XM_011527041.1:c.645C>A
POU2F2 transcript variant X19 XM_011527042.4:c.597= XM_011527042.4:c.597C>A
POU2F2 transcript variant X22 XM_011527042.3:c.597= XM_011527042.3:c.597C>A
POU2F2 transcript variant X19 XM_011527042.2:c.597= XM_011527042.2:c.597C>A
POU2F2 transcript variant X4 XM_011527042.1:c.597= XM_011527042.1:c.597C>A
POU2F2 transcript variant X2 XM_017026891.3:c.894= XM_017026891.3:c.894C>A
POU2F2 transcript variant X8 XM_017026891.2:c.894= XM_017026891.2:c.894C>A
POU2F2 transcript variant X8 XM_017026891.1:c.894= XM_017026891.1:c.894C>A
POU2F2 transcript variant X3 XM_017026892.3:c.876= XM_017026892.3:c.876C>A
POU2F2 transcript variant X9 XM_017026892.2:c.876= XM_017026892.2:c.876C>A
POU2F2 transcript variant X9 XM_017026892.1:c.876= XM_017026892.1:c.876C>A
POU2F2 transcript variant X15 XM_017026894.3:c.579= XM_017026894.3:c.579C>A
POU2F2 transcript variant X15 XM_017026894.2:c.579= XM_017026894.2:c.579C>A
POU2F2 transcript variant X12 XM_017026894.1:c.579= XM_017026894.1:c.579C>A
POU2F2 transcript variant X4 XM_047438954.1:c.858= XM_047438954.1:c.858C>A
POU2F2 transcript variant X5 XM_047438955.1:c.858= XM_047438955.1:c.858C>A
POU2F2 transcript variant X1 XM_047438953.1:c.876= XM_047438953.1:c.876C>A
POU2F2 transcript variant X9 XM_047438959.1:c.597= XM_047438959.1:c.597C>A
POU2F2 transcript variant X11 XM_047438961.1:c.543= XM_047438961.1:c.543C>A
POU2F2 transcript variant X14 XM_047438964.1:c.531= XM_047438964.1:c.531C>A
POU2F2 transcript variant X8 XM_047438958.1:c.645= XM_047438958.1:c.645C>A
POU2F2 transcript variant X12 XM_047438962.1:c.543= XM_047438962.1:c.543C>A
POU2F2 transcript variant X17 XM_047438966.1:c.495= XM_047438966.1:c.495C>A
POU2F2 transcript variant X10 XM_047438960.1:c.579= XM_047438960.1:c.579C>A
POU2F2 transcript variant X6 XM_047438956.1:c.858= XM_047438956.1:c.858C>A
POU2F2 transcript variant X7 XM_047438957.1:c.828= XM_047438957.1:c.828C>A
POU2F2 transcript variant X13 XM_047438963.1:c.531= XM_047438963.1:c.531C>A
POU2F2 transcript variant X16 XM_047438965.1:c.561= XM_047438965.1:c.561C>A
POU2F2 transcript variant X21 XM_047438968.1:c.-103= XM_047438968.1:c.-103C>A
POU2F2 transcript variant X20 XM_047438967.1:c.645= XM_047438967.1:c.645C>A
POU domain, class 2, transcription factor 2 isoform 2 NP_002689.1:p.His177= NP_002689.1:p.His177Gln
POU domain, class 2, transcription factor 2 isoform 1 NP_001193954.1:p.His193= NP_001193954.1:p.His193Gln
POU domain, class 2, transcription factor 2 isoform 3 NP_001193955.1:p.His193= NP_001193955.1:p.His193Gln
POU domain, class 2, transcription factor 2 isoform 4 NP_001234923.1:p.His177= NP_001234923.1:p.His177Gln
POU domain, class 2, transcription factor 2 isoform 5 NP_001380863.1:p.His286= NP_001380863.1:p.His286Gln
POU domain, class 2, transcription factor 2 isoform 9 NP_001381306.1:p.His292= NP_001381306.1:p.His292Gln
POU domain, class 2, transcription factor 2 isoform 10 NP_001381307.1:p.His276= NP_001381307.1:p.His276Gln
POU domain, class 2, transcription factor 2 isoform 8 NP_001381305.1:p.His215= NP_001381305.1:p.His215Gln
POU domain, class 2, transcription factor 2 isoform 6 NP_001380864.1:p.His199= NP_001380864.1:p.His199Gln
POU domain, class 2, transcription factor 2 isoform 7 NP_001380865.1:p.His177= NP_001380865.1:p.His177Gln
POU domain, class 2, transcription factor 2 isoform X15 XP_011525343.1:p.His215= XP_011525343.1:p.His215Gln
POU domain, class 2, transcription factor 2 isoform X16 XP_011525344.1:p.His199= XP_011525344.1:p.His199Gln
POU domain, class 2, transcription factor 2 isoform X2 XP_016882380.1:p.His298= XP_016882380.1:p.His298Gln
POU domain, class 2, transcription factor 2 isoform X3 XP_016882381.1:p.His292= XP_016882381.1:p.His292Gln
POU domain, class 2, transcription factor 2 isoform X12 XP_016882383.1:p.His193= XP_016882383.1:p.His193Gln
POU domain, class 2, transcription factor 2 isoform X4 XP_047294910.1:p.His286= XP_047294910.1:p.His286Gln
POU domain, class 2, transcription factor 2 isoform X4 XP_047294911.1:p.His286= XP_047294911.1:p.His286Gln
POU domain, class 2, transcription factor 2 isoform X1 XP_047294909.1:p.His292= XP_047294909.1:p.His292Gln
POU domain, class 2, transcription factor 2 isoform X7 XP_047294915.1:p.His199= XP_047294915.1:p.His199Gln
POU domain, class 2, transcription factor 2 isoform X9 XP_047294917.1:p.His181= XP_047294917.1:p.His181Gln
POU domain, class 2, transcription factor 2 isoform X11 XP_047294920.1:p.His177= XP_047294920.1:p.His177Gln
POU domain, class 2, transcription factor 2 isoform X6 XP_047294914.1:p.His215= XP_047294914.1:p.His215Gln
POU domain, class 2, transcription factor 2 isoform X9 XP_047294918.1:p.His181= XP_047294918.1:p.His181Gln
POU domain, class 2, transcription factor 2 isoform X14 XP_047294922.1:p.His165= XP_047294922.1:p.His165Gln
POU domain, class 2, transcription factor 2 isoform X8 XP_047294916.1:p.His193= XP_047294916.1:p.His193Gln
POU domain, class 2, transcription factor 2 isoform X4 XP_047294912.1:p.His286= XP_047294912.1:p.His286Gln
POU domain, class 2, transcription factor 2 isoform X5 XP_047294913.1:p.His276= XP_047294913.1:p.His276Gln
POU domain, class 2, transcription factor 2 isoform X10 XP_047294919.1:p.His177= XP_047294919.1:p.His177Gln
POU domain, class 2, transcription factor 2 isoform X13 XP_047294921.1:p.His187= XP_047294921.1:p.His187Gln
POU domain, class 2, transcription factor 2 isoform X17 XP_047294923.1:p.His215= XP_047294923.1:p.His215Gln
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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#.

8 SubSNP, 5 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1693631118 Apr 01, 2015 (144)
2 HUMAN_LONGEVITY ss2225893226 Dec 20, 2016 (150)
3 GNOMAD ss2744039449 Nov 08, 2017 (151)
4 EVA ss3825937222 Apr 27, 2020 (154)
5 GNOMAD ss4331576778 Apr 27, 2021 (155)
6 TOPMED ss5075420086 Apr 27, 2021 (155)
7 EVA ss5237247636 Apr 27, 2021 (155)
8 HUGCELL_USP ss5499826811 Oct 16, 2022 (156)
9 ExAC NC_000019.9 - 42600318 Oct 12, 2018 (152)
10 gnomAD - Genomes NC_000019.10 - 42096166 Apr 27, 2021 (155)
11 gnomAD - Exomes NC_000019.9 - 42600318 Jul 13, 2019 (153)
12 TopMed NC_000019.10 - 42096166 Apr 27, 2021 (155)
13 ALFA NC_000019.10 - 42096166 Apr 27, 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
4137517, 13353390, ss1693631118, ss2744039449, ss3825937222 NC_000019.9:42600317:G:T NC_000019.10:42096165:G:T (self)
540557770, 290965750, 9388135245, ss2225893226, ss4331576778, ss5075420086, ss5237247636, ss5499826811 NC_000019.10:42096165:G:T NC_000019.10:42096165:G: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 rs775709527

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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.post761+d5e8e07