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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.

rs4081908

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:240682792 (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
T>A / T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.213809 (56593/264690, TOPMED)
T=0.263483 (63093/239458, GnomAD_exome)
T=0.216257 (29494/136384, GnomAD) (+ 13 more)
T=0.21186 (7132/33664, ALFA)
T=0.45035 (12718/28240, 14KJPN)
T=0.44996 (7536/16748, 8.3KJPN)
T=0.25680 (3306/12874, GO-ESP)
T=0.2458 (1574/6404, 1000G_30x)
T=0.3053 (1529/5008, 1000G)
T=0.4348 (1267/2914, KOREAN)
T=0.290 (174/600, NorthernSweden)
C=0.004 (2/534, MGP)
T=0.176 (82/466, SGDP_PRJ)
T=0.130 (28/216, Qatari)
T=0.5 (2/4, Siberian)
C=0.5 (2/4, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
AQP12B : 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 33664 T=0.21186 C=0.78814, G=0.00000
European Sub 26762 T=0.20914 C=0.79086, G=0.00000
African Sub 3010 T=0.2299 C=0.7701, G=0.0000
African Others Sub 100 T=0.22 C=0.78, G=0.00
African American Sub 2910 T=0.2302 C=0.7698, G=0.0000
Asian Sub 208 T=0.418 C=0.582, G=0.000
East Asian Sub 152 T=0.395 C=0.605, G=0.000
Other Asian Sub 56 T=0.48 C=0.52, G=0.00
Latin American 1 Sub 146 T=0.212 C=0.788, G=0.000
Latin American 2 Sub 610 T=0.136 C=0.864, G=0.000
South Asian Sub 98 T=0.38 C=0.62, G=0.00
Other Sub 2830 T=0.2138 C=0.7862, G=0.0000


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 T=0.213809 C=0.786191
gnomAD - Exomes Global Study-wide 239458 T=0.263483 C=0.736517
gnomAD - Exomes European Sub 130600 T=0.246064 C=0.753936
gnomAD - Exomes Asian Sub 45516 T=0.41939 C=0.58061
gnomAD - Exomes American Sub 32860 T=0.14769 C=0.85231
gnomAD - Exomes African Sub 14760 T=0.26240 C=0.73760
gnomAD - Exomes Ashkenazi Jewish Sub 9806 T=0.1862 C=0.8138
gnomAD - Exomes Other Sub 5916 T=0.2224 C=0.7776
gnomAD - Genomes Global Study-wide 136384 T=0.216257 C=0.783743
gnomAD - Genomes European Sub 74122 T=0.21736 C=0.78264
gnomAD - Genomes African Sub 40644 T=0.22901 C=0.77099
gnomAD - Genomes American Sub 13368 T=0.15455 C=0.84545
gnomAD - Genomes Ashkenazi Jewish Sub 3286 T=0.1604 C=0.8396
gnomAD - Genomes East Asian Sub 2864 T=0.3642 C=0.6358
gnomAD - Genomes Other Sub 2100 T=0.2090 C=0.7910
Allele Frequency Aggregator Total Global 33664 T=0.21186 C=0.78814, G=0.00000
Allele Frequency Aggregator European Sub 26762 T=0.20914 C=0.79086, G=0.00000
Allele Frequency Aggregator African Sub 3010 T=0.2299 C=0.7701, G=0.0000
Allele Frequency Aggregator Other Sub 2830 T=0.2138 C=0.7862, G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 T=0.136 C=0.864, G=0.000
Allele Frequency Aggregator Asian Sub 208 T=0.418 C=0.582, G=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 T=0.212 C=0.788, G=0.000
Allele Frequency Aggregator South Asian Sub 98 T=0.38 C=0.62, G=0.00
14KJPN JAPANESE Study-wide 28240 T=0.45035 C=0.54965
8.3KJPN JAPANESE Study-wide 16748 T=0.44996 C=0.55004
GO Exome Sequencing Project Global Study-wide 12874 T=0.25680 C=0.74320
GO Exome Sequencing Project European American Sub 8534 T=0.2454 C=0.7546
GO Exome Sequencing Project African American Sub 4340 T=0.2793 C=0.7207
1000Genomes_30x Global Study-wide 6404 T=0.2458 C=0.7542
1000Genomes_30x African Sub 1786 T=0.2083 C=0.7917
1000Genomes_30x Europe Sub 1266 T=0.2038 C=0.7962
1000Genomes_30x South Asian Sub 1202 T=0.3336 C=0.6664
1000Genomes_30x East Asian Sub 1170 T=0.3376 C=0.6624
1000Genomes_30x American Sub 980 T=0.151 C=0.849
1000Genomes Global Study-wide 5008 T=0.3053 C=0.6947
1000Genomes African Sub 1322 T=0.2421 C=0.7579
1000Genomes East Asian Sub 1008 T=0.4931 C=0.5069
1000Genomes Europe Sub 1006 T=0.2306 C=0.7694
1000Genomes South Asian Sub 978 T=0.374 C=0.626
1000Genomes American Sub 694 T=0.164 C=0.836
KOREAN population from KRGDB KOREAN Study-wide 2914 T=0.4348 C=0.5652
Northern Sweden ACPOP Study-wide 600 T=0.290 C=0.710
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.996 C=0.004
SGDP_PRJ Global Study-wide 466 T=0.176 C=0.824
Qatari Global Study-wide 216 T=0.130 C=0.870
Siberian Global Study-wide 4 T=0.5 C=0.5
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 2 NC_000002.12:g.240682792T>A
GRCh38.p14 chr 2 NC_000002.12:g.240682792T>C
GRCh38.p14 chr 2 NC_000002.12:g.240682792T>G
GRCh37.p13 chr 2 NC_000002.11:g.241622209T>A
GRCh37.p13 chr 2 NC_000002.11:g.241622209T>C
GRCh37.p13 chr 2 NC_000002.11:g.241622209T>G
Gene: AQP12B, aquaporin 12B (minus strand)
Molecule type Change Amino acid[Codon] SO Term
AQP12B transcript NM_001102467.2:c.46A>T T [ACC] > S [TCC] Coding Sequence Variant
aquaporin-12B NP_001095937.1:p.Thr16Ser T (Thr) > S (Ser) Missense Variant
AQP12B transcript NM_001102467.2:c.46A>G T [ACC] > A [GCC] Coding Sequence Variant
aquaporin-12B NP_001095937.1:p.Thr16Ala T (Thr) > A (Ala) Missense Variant
AQP12B transcript NM_001102467.2:c.46A>C T [ACC] > P [CCC] Coding Sequence Variant
aquaporin-12B NP_001095937.1:p.Thr16Pro T (Thr) > P (Pro) Missense Variant
AQP12B transcript variant X4 XM_047445561.1:c.225+39A>T N/A Intron Variant
AQP12B transcript variant X10 XM_047445563.1:c.225+39A>T N/A Intron Variant
AQP12B transcript variant X1 XM_011511673.3:c.46A>T T [ACC] > S [TCC] Coding Sequence Variant
aquaporin-12B isoform X1 XP_011509975.1:p.Thr16Ser T (Thr) > S (Ser) Missense Variant
AQP12B transcript variant X1 XM_011511673.3:c.46A>G T [ACC] > A [GCC] Coding Sequence Variant
aquaporin-12B isoform X1 XP_011509975.1:p.Thr16Ala T (Thr) > A (Ala) Missense Variant
AQP12B transcript variant X1 XM_011511673.3:c.46A>C T [ACC] > P [CCC] Coding Sequence Variant
aquaporin-12B isoform X1 XP_011509975.1:p.Thr16Pro T (Thr) > P (Pro) Missense Variant
AQP12B transcript variant X2 XM_047445559.1:c.46A>T T [ACC] > S [TCC] Coding Sequence Variant
aquaporin-12B isoform X2 XP_047301515.1:p.Thr16Ser T (Thr) > S (Ser) Missense Variant
AQP12B transcript variant X2 XM_047445559.1:c.46A>G T [ACC] > A [GCC] Coding Sequence Variant
aquaporin-12B isoform X2 XP_047301515.1:p.Thr16Ala T (Thr) > A (Ala) Missense Variant
AQP12B transcript variant X2 XM_047445559.1:c.46A>C T [ACC] > P [CCC] Coding Sequence Variant
aquaporin-12B isoform X2 XP_047301515.1:p.Thr16Pro T (Thr) > P (Pro) Missense Variant
AQP12B transcript variant X3 XM_047445560.1:c.46A>T T [ACC] > S [TCC] Coding Sequence Variant
aquaporin-12B isoform X3 XP_047301516.1:p.Thr16Ser T (Thr) > S (Ser) Missense Variant
AQP12B transcript variant X3 XM_047445560.1:c.46A>G T [ACC] > A [GCC] Coding Sequence Variant
aquaporin-12B isoform X3 XP_047301516.1:p.Thr16Ala T (Thr) > A (Ala) Missense Variant
AQP12B transcript variant X3 XM_047445560.1:c.46A>C T [ACC] > P [CCC] Coding Sequence Variant
aquaporin-12B isoform X3 XP_047301516.1:p.Thr16Pro T (Thr) > P (Pro) Missense Variant
AQP12B transcript variant X5 XM_047445562.1:c.46A>T T [ACC] > S [TCC] Coding Sequence Variant
aquaporin-12B isoform X5 XP_047301518.1:p.Thr16Ser T (Thr) > S (Ser) Missense Variant
AQP12B transcript variant X5 XM_047445562.1:c.46A>G T [ACC] > A [GCC] Coding Sequence Variant
aquaporin-12B isoform X5 XP_047301518.1:p.Thr16Ala T (Thr) > A (Ala) Missense Variant
AQP12B transcript variant X5 XM_047445562.1:c.46A>C T [ACC] > P [CCC] Coding Sequence Variant
aquaporin-12B isoform X5 XP_047301518.1:p.Thr16Pro T (Thr) > P (Pro) Missense Variant
AQP12B transcript variant X6 XM_011511676.3:c.46A>T T [ACC] > S [TCC] Coding Sequence Variant
aquaporin-12B isoform X6 XP_011509978.1:p.Thr16Ser T (Thr) > S (Ser) Missense Variant
AQP12B transcript variant X6 XM_011511676.3:c.46A>G T [ACC] > A [GCC] Coding Sequence Variant
aquaporin-12B isoform X6 XP_011509978.1:p.Thr16Ala T (Thr) > A (Ala) Missense Variant
AQP12B transcript variant X6 XM_011511676.3:c.46A>C T [ACC] > P [CCC] Coding Sequence Variant
aquaporin-12B isoform X6 XP_011509978.1:p.Thr16Pro T (Thr) > P (Pro) Missense Variant
AQP12B transcript variant X8 XM_011511677.3:c.46A>T T [ACC] > S [TCC] Coding Sequence Variant
aquaporin-12B isoform X7 XP_011509979.1:p.Thr16Ser T (Thr) > S (Ser) Missense Variant
AQP12B transcript variant X8 XM_011511677.3:c.46A>G T [ACC] > A [GCC] Coding Sequence Variant
aquaporin-12B isoform X7 XP_011509979.1:p.Thr16Ala T (Thr) > A (Ala) Missense Variant
AQP12B transcript variant X8 XM_011511677.3:c.46A>C T [ACC] > P [CCC] Coding Sequence Variant
aquaporin-12B isoform X7 XP_011509979.1:p.Thr16Pro T (Thr) > P (Pro) Missense Variant
AQP12B transcript variant X9 XM_017004737.2:c.46A>T T [ACC] > S [TCC] Coding Sequence Variant
aquaporin-12B isoform X8 XP_016860226.1:p.Thr16Ser T (Thr) > S (Ser) Missense Variant
AQP12B transcript variant X9 XM_017004737.2:c.46A>G T [ACC] > A [GCC] Coding Sequence Variant
aquaporin-12B isoform X8 XP_016860226.1:p.Thr16Ala T (Thr) > A (Ala) Missense Variant
AQP12B transcript variant X9 XM_017004737.2:c.46A>C T [ACC] > P [CCC] Coding Sequence Variant
aquaporin-12B isoform X8 XP_016860226.1:p.Thr16Pro T (Thr) > P (Pro) Missense Variant
AQP12B transcript variant X11 XM_047445564.1:c.46A>T T [ACC] > S [TCC] Coding Sequence Variant
aquaporin-12B isoform X10 XP_047301520.1:p.Thr16Ser T (Thr) > S (Ser) Missense Variant
AQP12B transcript variant X11 XM_047445564.1:c.46A>G T [ACC] > A [GCC] Coding Sequence Variant
aquaporin-12B isoform X10 XP_047301520.1:p.Thr16Ala T (Thr) > A (Ala) Missense Variant
AQP12B transcript variant X11 XM_047445564.1:c.46A>C T [ACC] > P [CCC] Coding Sequence Variant
aquaporin-12B isoform X10 XP_047301520.1:p.Thr16Pro T (Thr) > P (Pro) Missense Variant
AQP12B transcript variant X12 XM_047445565.1:c.46A>T T [ACC] > S [TCC] Coding Sequence Variant
aquaporin-12B isoform X11 XP_047301521.1:p.Thr16Ser T (Thr) > S (Ser) Missense Variant
AQP12B transcript variant X12 XM_047445565.1:c.46A>G T [ACC] > A [GCC] Coding Sequence Variant
aquaporin-12B isoform X11 XP_047301521.1:p.Thr16Ala T (Thr) > A (Ala) Missense Variant
AQP12B transcript variant X12 XM_047445565.1:c.46A>C T [ACC] > P [CCC] Coding Sequence Variant
aquaporin-12B isoform X11 XP_047301521.1:p.Thr16Pro T (Thr) > P (Pro) Missense Variant
AQP12B transcript variant X13 XM_011511678.3:c.46A>T T [ACC] > S [TCC] Coding Sequence Variant
aquaporin-12B isoform X12 XP_011509980.1:p.Thr16Ser T (Thr) > S (Ser) Missense Variant
AQP12B transcript variant X13 XM_011511678.3:c.46A>G T [ACC] > A [GCC] Coding Sequence Variant
aquaporin-12B isoform X12 XP_011509980.1:p.Thr16Ala T (Thr) > A (Ala) Missense Variant
AQP12B transcript variant X13 XM_011511678.3:c.46A>C T [ACC] > P [CCC] Coding Sequence Variant
aquaporin-12B isoform X12 XP_011509980.1:p.Thr16Pro T (Thr) > P (Pro) Missense Variant
AQP12B transcript variant X14 XM_047445566.1:c.46A>T T [ACC] > S [TCC] Coding Sequence Variant
aquaporin-12B isoform X13 XP_047301522.1:p.Thr16Ser T (Thr) > S (Ser) Missense Variant
AQP12B transcript variant X14 XM_047445566.1:c.46A>G T [ACC] > A [GCC] Coding Sequence Variant
aquaporin-12B isoform X13 XP_047301522.1:p.Thr16Ala T (Thr) > A (Ala) Missense Variant
AQP12B transcript variant X14 XM_047445566.1:c.46A>C T [ACC] > P [CCC] Coding Sequence Variant
aquaporin-12B isoform X13 XP_047301522.1:p.Thr16Pro T (Thr) > P (Pro) Missense Variant
AQP12B transcript variant X7 XR_922992.3:n.94A>T N/A Non Coding Transcript Variant
AQP12B transcript variant X7 XR_922992.3:n.94A>G N/A Non Coding Transcript Variant
AQP12B transcript variant X7 XR_922992.3:n.94A>C N/A Non Coding Transcript Variant
AQP12B transcript variant X15 XR_922998.3:n.94A>T N/A Non Coding Transcript Variant
AQP12B transcript variant X15 XR_922998.3:n.94A>G N/A Non Coding Transcript Variant
AQP12B transcript variant X15 XR_922998.3:n.94A>C 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 T= A C G
GRCh38.p14 chr 2 NC_000002.12:g.240682792= NC_000002.12:g.240682792T>A NC_000002.12:g.240682792T>C NC_000002.12:g.240682792T>G
GRCh37.p13 chr 2 NC_000002.11:g.241622209= NC_000002.11:g.241622209T>A NC_000002.11:g.241622209T>C NC_000002.11:g.241622209T>G
AQP12B transcript variant X1 XM_011511673.3:c.46= XM_011511673.3:c.46A>T XM_011511673.3:c.46A>G XM_011511673.3:c.46A>C
AQP12B transcript variant X4 XM_011511673.2:c.46= XM_011511673.2:c.46A>T XM_011511673.2:c.46A>G XM_011511673.2:c.46A>C
AQP12B transcript variant X3 XM_011511673.1:c.46= XM_011511673.1:c.46A>T XM_011511673.1:c.46A>G XM_011511673.1:c.46A>C
AQP12B transcript variant X7 XR_922992.3:n.94= XR_922992.3:n.94A>T XR_922992.3:n.94A>G XR_922992.3:n.94A>C
AQP12B transcript variant X7 XR_922992.2:n.130= XR_922992.2:n.130A>T XR_922992.2:n.130A>G XR_922992.2:n.130A>C
AQP12B transcript variant X7 XR_922992.1:n.127= XR_922992.1:n.127A>T XR_922992.1:n.127A>G XR_922992.1:n.127A>C
AQP12B transcript variant X8 XM_011511677.3:c.46= XM_011511677.3:c.46A>T XM_011511677.3:c.46A>G XM_011511677.3:c.46A>C
AQP12B transcript variant X8 XM_011511677.2:c.46= XM_011511677.2:c.46A>T XM_011511677.2:c.46A>G XM_011511677.2:c.46A>C
AQP12B transcript variant X8 XM_011511677.1:c.46= XM_011511677.1:c.46A>T XM_011511677.1:c.46A>G XM_011511677.1:c.46A>C
AQP12B transcript variant X15 XR_922998.3:n.94= XR_922998.3:n.94A>T XR_922998.3:n.94A>G XR_922998.3:n.94A>C
AQP12B transcript variant X15 XR_922998.2:n.130= XR_922998.2:n.130A>T XR_922998.2:n.130A>G XR_922998.2:n.130A>C
AQP12B transcript variant X15 XR_922998.1:n.127= XR_922998.1:n.127A>T XR_922998.1:n.127A>G XR_922998.1:n.127A>C
AQP12B transcript variant X6 XM_011511676.3:c.46= XM_011511676.3:c.46A>T XM_011511676.3:c.46A>G XM_011511676.3:c.46A>C
AQP12B transcript variant X6 XM_011511676.2:c.46= XM_011511676.2:c.46A>T XM_011511676.2:c.46A>G XM_011511676.2:c.46A>C
AQP12B transcript variant X6 XM_011511676.1:c.46= XM_011511676.1:c.46A>T XM_011511676.1:c.46A>G XM_011511676.1:c.46A>C
AQP12B transcript variant X13 XM_011511678.3:c.46= XM_011511678.3:c.46A>T XM_011511678.3:c.46A>G XM_011511678.3:c.46A>C
AQP12B transcript variant X13 XM_011511678.2:c.46= XM_011511678.2:c.46A>T XM_011511678.2:c.46A>G XM_011511678.2:c.46A>C
AQP12B transcript variant X13 XM_011511678.1:c.46= XM_011511678.1:c.46A>T XM_011511678.1:c.46A>G XM_011511678.1:c.46A>C
AQP12B transcript variant X9 XM_017004737.2:c.46= XM_017004737.2:c.46A>T XM_017004737.2:c.46A>G XM_017004737.2:c.46A>C
AQP12B transcript variant X9 XM_017004737.1:c.46= XM_017004737.1:c.46A>T XM_017004737.1:c.46A>G XM_017004737.1:c.46A>C
AQP12B transcript NM_001102467.2:c.46= NM_001102467.2:c.46A>T NM_001102467.2:c.46A>G NM_001102467.2:c.46A>C
AQP12B transcript NM_001102467.1:c.46= NM_001102467.1:c.46A>T NM_001102467.1:c.46A>G NM_001102467.1:c.46A>C
AQP12B transcript variant X2 XM_047445559.1:c.46= XM_047445559.1:c.46A>T XM_047445559.1:c.46A>G XM_047445559.1:c.46A>C
AQP12B transcript variant X3 XM_047445560.1:c.46= XM_047445560.1:c.46A>T XM_047445560.1:c.46A>G XM_047445560.1:c.46A>C
AQP12B transcript variant X11 XM_047445564.1:c.46= XM_047445564.1:c.46A>T XM_047445564.1:c.46A>G XM_047445564.1:c.46A>C
AQP12B transcript variant X5 XM_047445562.1:c.46= XM_047445562.1:c.46A>T XM_047445562.1:c.46A>G XM_047445562.1:c.46A>C
AQP12B transcript variant X14 XM_047445566.1:c.46= XM_047445566.1:c.46A>T XM_047445566.1:c.46A>G XM_047445566.1:c.46A>C
AQP12B transcript variant X12 XM_047445565.1:c.46= XM_047445565.1:c.46A>T XM_047445565.1:c.46A>G XM_047445565.1:c.46A>C
aquaporin-12B isoform X1 XP_011509975.1:p.Thr16= XP_011509975.1:p.Thr16Ser XP_011509975.1:p.Thr16Ala XP_011509975.1:p.Thr16Pro
aquaporin-12B isoform X7 XP_011509979.1:p.Thr16= XP_011509979.1:p.Thr16Ser XP_011509979.1:p.Thr16Ala XP_011509979.1:p.Thr16Pro
aquaporin-12B isoform X6 XP_011509978.1:p.Thr16= XP_011509978.1:p.Thr16Ser XP_011509978.1:p.Thr16Ala XP_011509978.1:p.Thr16Pro
aquaporin-12B isoform X12 XP_011509980.1:p.Thr16= XP_011509980.1:p.Thr16Ser XP_011509980.1:p.Thr16Ala XP_011509980.1:p.Thr16Pro
aquaporin-12B isoform X8 XP_016860226.1:p.Thr16= XP_016860226.1:p.Thr16Ser XP_016860226.1:p.Thr16Ala XP_016860226.1:p.Thr16Pro
aquaporin-12B NP_001095937.1:p.Thr16= NP_001095937.1:p.Thr16Ser NP_001095937.1:p.Thr16Ala NP_001095937.1:p.Thr16Pro
aquaporin-12B isoform X2 XP_047301515.1:p.Thr16= XP_047301515.1:p.Thr16Ser XP_047301515.1:p.Thr16Ala XP_047301515.1:p.Thr16Pro
aquaporin-12B isoform X3 XP_047301516.1:p.Thr16= XP_047301516.1:p.Thr16Ser XP_047301516.1:p.Thr16Ala XP_047301516.1:p.Thr16Pro
aquaporin-12B isoform X10 XP_047301520.1:p.Thr16= XP_047301520.1:p.Thr16Ser XP_047301520.1:p.Thr16Ala XP_047301520.1:p.Thr16Pro
aquaporin-12B isoform X5 XP_047301518.1:p.Thr16= XP_047301518.1:p.Thr16Ser XP_047301518.1:p.Thr16Ala XP_047301518.1:p.Thr16Pro
aquaporin-12B isoform X13 XP_047301522.1:p.Thr16= XP_047301522.1:p.Thr16Ser XP_047301522.1:p.Thr16Ala XP_047301522.1:p.Thr16Pro
aquaporin-12B isoform X11 XP_047301521.1:p.Thr16= XP_047301521.1:p.Thr16Ser XP_047301521.1:p.Thr16Ala XP_047301521.1:p.Thr16Pro
AQP12B transcript variant X4 XM_047445561.1:c.225+39= XM_047445561.1:c.225+39A>T XM_047445561.1:c.225+39A>G XM_047445561.1:c.225+39A>C
AQP12B transcript variant X10 XM_047445563.1:c.225+39= XM_047445563.1:c.225+39A>T XM_047445563.1:c.225+39A>G XM_047445563.1:c.225+39A>C
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#.

71 SubSNP, 17 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss5470096 Oct 10, 2002 (108)
2 WI_SSAHASNP ss6439232 Feb 20, 2003 (111)
3 CSHL-HAPMAP ss16830673 Feb 27, 2004 (120)
4 BCMHGSC_JDW ss91607764 Mar 24, 2008 (129)
5 ENSEMBL ss132939940 Dec 01, 2009 (131)
6 ENSEMBL ss138660195 Dec 01, 2009 (131)
7 BCM-HGSC-SUB ss205975157 Jul 04, 2010 (132)
8 1000GENOMES ss219916308 Jul 14, 2010 (132)
9 GMI ss276965820 May 04, 2012 (137)
10 1000GENOMES ss489861127 May 04, 2012 (137)
11 EXOME_CHIP ss491334375 May 04, 2012 (137)
12 CLINSEQ_SNP ss491803872 May 04, 2012 (137)
13 SSMP ss650008266 Apr 25, 2013 (138)
14 NHLBI-ESP ss712487239 Apr 25, 2013 (138)
15 EVA-GONL ss978151049 Aug 21, 2014 (142)
16 1000GENOMES ss1302360722 Aug 21, 2014 (142)
17 DDI ss1428967671 Apr 01, 2015 (144)
18 EVA_EXAC ss1686824819 Apr 01, 2015 (144)
19 EVA_EXAC ss1686824820 Apr 01, 2015 (144)
20 EVA_MGP ss1711003564 Apr 01, 2015 (144)
21 WEILL_CORNELL_DGM ss1921401100 Feb 12, 2016 (147)
22 JJLAB ss2021249308 Sep 14, 2016 (149)
23 USC_VALOUEV ss2149317127 Dec 20, 2016 (150)
24 SYSTEMSBIOZJU ss2625124748 Nov 08, 2017 (151)
25 GRF ss2703972902 Nov 08, 2017 (151)
26 ILLUMINA ss2710931157 Nov 08, 2017 (151)
27 GNOMAD ss2733472069 Nov 08, 2017 (151)
28 GNOMAD ss2746923964 Nov 08, 2017 (151)
29 GNOMAD ss2788322730 Nov 08, 2017 (151)
30 SWEGEN ss2991649299 Nov 08, 2017 (151)
31 CSHL ss3344827321 Nov 08, 2017 (151)
32 OMUKHERJEE_ADBS ss3646281218 Oct 11, 2018 (152)
33 URBANLAB ss3647314147 Oct 11, 2018 (152)
34 ACPOP ss3729532633 Jul 13, 2019 (153)
35 EVA ss3758310258 Jul 13, 2019 (153)
36 PACBIO ss3784202304 Jul 13, 2019 (153)
37 PACBIO ss3789733931 Jul 13, 2019 (153)
38 PACBIO ss3794607539 Jul 13, 2019 (153)
39 KHV_HUMAN_GENOMES ss3802670546 Jul 13, 2019 (153)
40 EVA ss3823874512 Apr 25, 2020 (154)
41 EVA ss3825623982 Apr 25, 2020 (154)
42 EVA ss3827601122 Apr 25, 2020 (154)
43 EVA ss3837220869 Apr 25, 2020 (154)
44 EVA ss3842643963 Apr 25, 2020 (154)
45 SGDP_PRJ ss3854978012 Apr 25, 2020 (154)
46 KRGDB ss3900736812 Apr 25, 2020 (154)
47 FSA-LAB ss3984209079 Apr 27, 2021 (155)
48 FSA-LAB ss3984209080 Apr 27, 2021 (155)
49 EVA ss3986021696 Apr 27, 2021 (155)
50 EVA ss3986223470 Apr 27, 2021 (155)
51 TOPMED ss4550635738 Apr 27, 2021 (155)
52 EVA ss5141899007 Apr 27, 2021 (155)
53 TOMMO_GENOMICS ss5157308189 Apr 27, 2021 (155)
54 EVA ss5236980386 Apr 27, 2021 (155)
55 EVA ss5237174781 Apr 27, 2021 (155)
56 GENOMICARE ss5240839892 Oct 13, 2022 (156)
57 1000G_HIGH_COVERAGE ss5252662244 Oct 13, 2022 (156)
58 EVA ss5337191238 Oct 13, 2022 (156)
59 1000G_HIGH_COVERAGE ss5530308649 Oct 13, 2022 (156)
60 EVA ss5623924302 Oct 13, 2022 (156)
61 EVA ss5624110356 Oct 13, 2022 (156)
62 SANFORD_IMAGENETICS ss5631312843 Oct 13, 2022 (156)
63 TOMMO_GENOMICS ss5688436725 Oct 13, 2022 (156)
64 EVA ss5800103566 Oct 13, 2022 (156)
65 YY_MCH ss5803379992 Oct 13, 2022 (156)
66 EVA ss5821841359 Oct 13, 2022 (156)
67 EVA ss5848540422 Oct 13, 2022 (156)
68 EVA ss5936519758 Oct 13, 2022 (156)
69 EVA ss5957583327 Oct 13, 2022 (156)
70 EVA ss5980123801 Oct 13, 2022 (156)
71 EVA ss5981212361 Oct 13, 2022 (156)
72 1000Genomes NC_000002.11 - 241622209 Oct 11, 2018 (152)
73 1000Genomes_30x NC_000002.12 - 240682792 Oct 13, 2022 (156)
74 ExAC

Submission ignored due to conflicting rows:
Row 6735999 (NC_000002.11:241622208:T:T 33156/113864, NC_000002.11:241622208:T:C 80708/113864)
Row 6736000 (NC_000002.11:241622208:T:T 113862/113864, NC_000002.11:241622208:T:A 2/113864)

- Oct 11, 2018 (152)
75 ExAC

Submission ignored due to conflicting rows:
Row 6735999 (NC_000002.11:241622208:T:T 33156/113864, NC_000002.11:241622208:T:C 80708/113864)
Row 6736000 (NC_000002.11:241622208:T:T 113862/113864, NC_000002.11:241622208:T:A 2/113864)

- Oct 11, 2018 (152)
76 gnomAD - Genomes NC_000002.12 - 240682792 Apr 27, 2021 (155)
77 gnomAD - Exomes NC_000002.11 - 241622209 Jul 13, 2019 (153)
78 GO Exome Sequencing Project NC_000002.11 - 241622209 Oct 11, 2018 (152)
79 KOREAN population from KRGDB NC_000002.11 - 241622209 Apr 25, 2020 (154)
80 Medical Genome Project healthy controls from Spanish population NC_000002.11 - 241622209 Apr 25, 2020 (154)
81 Northern Sweden NC_000002.11 - 241622209 Jul 13, 2019 (153)
82 Qatari NC_000002.11 - 241622209 Apr 25, 2020 (154)
83 SGDP_PRJ NC_000002.11 - 241622209 Apr 25, 2020 (154)
84 Siberian NC_000002.11 - 241622209 Apr 25, 2020 (154)
85 8.3KJPN NC_000002.11 - 241622209 Apr 27, 2021 (155)
86 14KJPN NC_000002.12 - 240682792 Oct 13, 2022 (156)
87 TopMed NC_000002.12 - 240682792 Apr 27, 2021 (155)
88 ALFA NC_000002.12 - 240682792 Apr 27, 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
ss1686824820 NC_000002.11:241622208:T:A NC_000002.12:240682791:T:A (self)
ss91607764, ss205975157, ss276965820, ss491803872 NC_000002.10:241270881:T:C NC_000002.12:240682791:T:C (self)
13491408, 2541715, 332907, 7914206, 120103, 2817498, 3443030, 6994992, 1833481, 15277496, ss219916308, ss489861127, ss491334375, ss650008266, ss712487239, ss978151049, ss1302360722, ss1428967671, ss1686824819, ss1711003564, ss1921401100, ss2021249308, ss2149317127, ss2625124748, ss2703972902, ss2710931157, ss2733472069, ss2746923964, ss2788322730, ss2991649299, ss3344827321, ss3646281218, ss3729532633, ss3758310258, ss3784202304, ss3789733931, ss3794607539, ss3823874512, ss3825623982, ss3827601122, ss3837220869, ss3854978012, ss3900736812, ss3984209079, ss3984209080, ss3986021696, ss3986223470, ss5157308189, ss5240839892, ss5337191238, ss5623924302, ss5624110356, ss5631312843, ss5800103566, ss5821841359, ss5848540422, ss5936519758, ss5957583327, ss5980123801, ss5981212361 NC_000002.11:241622208:T:C NC_000002.12:240682791:T:C (self)
17834584, 95992478, 22273829, 354458617, 5776610156, ss3647314147, ss3802670546, ss3842643963, ss4550635738, ss5141899007, ss5236980386, ss5237174781, ss5252662244, ss5530308649, ss5688436725, ss5803379992 NC_000002.12:240682791:T:C NC_000002.12:240682791:T:C (self)
ss16830673 NT_005416.11:796812:T:C NC_000002.12:240682791:T:C (self)
ss5470096, ss6439232, ss132939940, ss138660195 NT_005416.13:813076:T:C NC_000002.12:240682791:T:C (self)
ss2733472069 NC_000002.11:241622208:T:G NC_000002.12:240682791:T:G (self)
5776610156 NC_000002.12:240682791:T:G NC_000002.12:240682791:T:G (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 rs4081908

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
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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