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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.

rs1438113018

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:118160219 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000004 (1/264690, TOPMED)
A=0.000007 (1/140300, GnomAD)
A=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TAOK3 : 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 T=1.00000 A=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 T=1.0000 A=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 T=1.0000 A=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 T=1.000 A=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 T=1.0000 A=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 T=1.000 A=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 T=1.00 A=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 T=1.00 A=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 T=1.000 A=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 T=1.000 A=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 T=1.00 A=0.00 1.0 0.0 0.0 N/A
Other Sub 496 T=1.000 A=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 T=0.999996 A=0.000004
gnomAD - Genomes Global Study-wide 140300 T=0.999993 A=0.000007
gnomAD - Genomes European Sub 75968 T=1.00000 A=0.00000
gnomAD - Genomes African Sub 42060 T=1.00000 A=0.00000
gnomAD - Genomes American Sub 13666 T=0.99993 A=0.00007
gnomAD - Genomes Ashkenazi Jewish Sub 3320 T=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3134 T=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2152 T=1.0000 A=0.0000
Allele Frequency Aggregator Total Global 14050 T=1.00000 A=0.00000
Allele Frequency Aggregator European Sub 9690 T=1.0000 A=0.0000
Allele Frequency Aggregator African Sub 2898 T=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 T=1.000 A=0.000
Allele Frequency Aggregator Other Sub 496 T=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 T=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 112 T=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 98 T=1.00 A=0.00
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 12 NC_000012.12:g.118160219T>A
GRCh37.p13 chr 12 NC_000012.11:g.118598024T>A
TAOK3 RefSeqGene NG_051835.1:g.217727A>T
Gene: TAOK3, TAO kinase 3 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TAOK3 transcript variant 2 NM_016281.4:c.2279A>T E [GAG] > V [GTG] Coding Sequence Variant
serine/threonine-protein kinase TAO3 isoform b NP_057365.3:p.Glu760Val E (Glu) > V (Val) Missense Variant
TAOK3 transcript variant 11 NM_001346496.2:c.899A>T E [GAG] > V [GTG] Coding Sequence Variant
serine/threonine-protein kinase TAO3 isoform g NP_001333425.1:p.Glu300Val E (Glu) > V (Val) Missense Variant
TAOK3 transcript variant 9 NM_001346494.2:c.899A>T E [GAG] > V [GTG] Coding Sequence Variant
serine/threonine-protein kinase TAO3 isoform f NP_001333423.1:p.Glu300Val E (Glu) > V (Val) Missense Variant
TAOK3 transcript variant 12 NM_001346497.2:c.899A>T E [GAG] > V [GTG] Coding Sequence Variant
serine/threonine-protein kinase TAO3 isoform g NP_001333426.1:p.Glu300Val E (Glu) > V (Val) Missense Variant
TAOK3 transcript variant 4 NM_001346489.2:c.2279A>T E [GAG] > V [GTG] Coding Sequence Variant
serine/threonine-protein kinase TAO3 isoform b NP_001333418.1:p.Glu760Val E (Glu) > V (Val) Missense Variant
TAOK3 transcript variant 1 NM_001346487.2:c.2306A>T E [GAG] > V [GTG] Coding Sequence Variant
serine/threonine-protein kinase TAO3 isoform a NP_001333416.1:p.Glu769Val E (Glu) > V (Val) Missense Variant
TAOK3 transcript variant 8 NM_001346493.2:c.1769A>T E [GAG] > V [GTG] Coding Sequence Variant
serine/threonine-protein kinase TAO3 isoform e NP_001333422.1:p.Glu590Val E (Glu) > V (Val) Missense Variant
TAOK3 transcript variant 3 NM_001346488.2:c.2279A>T E [GAG] > V [GTG] Coding Sequence Variant
serine/threonine-protein kinase TAO3 isoform b NP_001333417.1:p.Glu760Val E (Glu) > V (Val) Missense Variant
TAOK3 transcript variant 5 NM_001346490.2:c.1796A>T E [GAG] > V [GTG] Coding Sequence Variant
serine/threonine-protein kinase TAO3 isoform c NP_001333419.1:p.Glu599Val E (Glu) > V (Val) Missense Variant
TAOK3 transcript variant 6 NM_001346491.2:c.1769A>T E [GAG] > V [GTG] Coding Sequence Variant
serine/threonine-protein kinase TAO3 isoform d NP_001333420.1:p.Glu590Val E (Glu) > V (Val) Missense Variant
TAOK3 transcript variant 10 NM_001346495.2:c.899A>T E [GAG] > V [GTG] Coding Sequence Variant
serine/threonine-protein kinase TAO3 isoform f NP_001333424.1:p.Glu300Val E (Glu) > V (Val) Missense Variant
TAOK3 transcript variant 7 NM_001346492.2:c.1769A>T E [GAG] > V [GTG] Coding Sequence Variant
serine/threonine-protein kinase TAO3 isoform d NP_001333421.1:p.Glu590Val E (Glu) > V (Val) Missense Variant
TAOK3 transcript variant X1 XM_024449010.2:c.2306A>T E [GAG] > V [GTG] Coding Sequence Variant
serine/threonine-protein kinase TAO3 isoform X1 XP_024304778.1:p.Glu769Val E (Glu) > V (Val) Missense Variant
TAOK3 transcript variant X2 XM_011538437.3:c.2306A>T E [GAG] > V [GTG] Coding Sequence Variant
serine/threonine-protein kinase TAO3 isoform X1 XP_011536739.1:p.Glu769Val E (Glu) > V (Val) Missense Variant
TAOK3 transcript variant X3 XM_006719445.4:c.2306A>T E [GAG] > V [GTG] Coding Sequence Variant
serine/threonine-protein kinase TAO3 isoform X1 XP_006719508.1:p.Glu769Val E (Glu) > V (Val) Missense Variant
TAOK3 transcript variant X4 XM_005253898.3:c.2306A>T E [GAG] > V [GTG] Coding Sequence Variant
serine/threonine-protein kinase TAO3 isoform X1 XP_005253955.1:p.Glu769Val E (Glu) > V (Val) Missense Variant
TAOK3 transcript variant X5 XM_047428941.1:c.2306A>T E [GAG] > V [GTG] Coding Sequence Variant
serine/threonine-protein kinase TAO3 isoform X1 XP_047284897.1:p.Glu769Val E (Glu) > V (Val) Missense Variant
TAOK3 transcript variant X6 XM_017019409.3:c.2306A>T E [GAG] > V [GTG] Coding Sequence Variant
serine/threonine-protein kinase TAO3 isoform X1 XP_016874898.1:p.Glu769Val E (Glu) > V (Val) Missense Variant
TAOK3 transcript variant X7 XM_017019408.3:c.2306A>T E [GAG] > V [GTG] Coding Sequence Variant
serine/threonine-protein kinase TAO3 isoform X1 XP_016874897.1:p.Glu769Val E (Glu) > V (Val) Missense Variant
TAOK3 transcript variant X8 XM_047428942.1:c.2306A>T E [GAG] > V [GTG] Coding Sequence Variant
serine/threonine-protein kinase TAO3 isoform X1 XP_047284898.1:p.Glu769Val E (Glu) > V (Val) Missense Variant
TAOK3 transcript variant X9 XM_047428943.1:c.2306A>T E [GAG] > V [GTG] Coding Sequence Variant
serine/threonine-protein kinase TAO3 isoform X1 XP_047284899.1:p.Glu769Val E (Glu) > V (Val) Missense Variant
TAOK3 transcript variant X10 XM_017019410.3:c.2306A>T E [GAG] > V [GTG] Coding Sequence Variant
serine/threonine-protein kinase TAO3 isoform X1 XP_016874899.1:p.Glu769Val E (Glu) > V (Val) Missense Variant
TAOK3 transcript variant X11 XM_047428944.1:c.2279A>T E [GAG] > V [GTG] Coding Sequence Variant
serine/threonine-protein kinase TAO3 isoform X2 XP_047284900.1:p.Glu760Val E (Glu) > V (Val) Missense Variant
TAOK3 transcript variant X12 XM_047428945.1:c.2279A>T E [GAG] > V [GTG] Coding Sequence Variant
serine/threonine-protein kinase TAO3 isoform X2 XP_047284901.1:p.Glu760Val E (Glu) > V (Val) Missense Variant
TAOK3 transcript variant X13 XM_047428946.1:c.2279A>T E [GAG] > V [GTG] Coding Sequence Variant
serine/threonine-protein kinase TAO3 isoform X2 XP_047284902.1:p.Glu760Val E (Glu) > V (Val) Missense Variant
TAOK3 transcript variant X14 XM_047428947.1:c.2279A>T E [GAG] > V [GTG] Coding Sequence Variant
serine/threonine-protein kinase TAO3 isoform X2 XP_047284903.1:p.Glu760Val E (Glu) > V (Val) Missense Variant
TAOK3 transcript variant X15 XM_047428948.1:c.2279A>T E [GAG] > V [GTG] Coding Sequence Variant
serine/threonine-protein kinase TAO3 isoform X2 XP_047284904.1:p.Glu760Val E (Glu) > V (Val) Missense Variant
TAOK3 transcript variant X16 XM_047428950.1:c.2279A>T E [GAG] > V [GTG] Coding Sequence Variant
serine/threonine-protein kinase TAO3 isoform X2 XP_047284906.1:p.Glu760Val E (Glu) > V (Val) Missense Variant
TAOK3 transcript variant X17 XM_047428951.1:c.2279A>T E [GAG] > V [GTG] Coding Sequence Variant
serine/threonine-protein kinase TAO3 isoform X2 XP_047284907.1:p.Glu760Val E (Glu) > V (Val) Missense Variant
TAOK3 transcript variant X18 XM_047428952.1:c.2279A>T E [GAG] > V [GTG] Coding Sequence Variant
serine/threonine-protein kinase TAO3 isoform X2 XP_047284908.1:p.Glu760Val E (Glu) > V (Val) Missense Variant
TAOK3 transcript variant X19 XM_047428953.1:c.2279A>T E [GAG] > V [GTG] Coding Sequence Variant
serine/threonine-protein kinase TAO3 isoform X2 XP_047284909.1:p.Glu760Val E (Glu) > V (Val) Missense Variant
TAOK3 transcript variant X20 XM_047428954.1:c.2279A>T E [GAG] > V [GTG] Coding Sequence Variant
serine/threonine-protein kinase TAO3 isoform X2 XP_047284910.1:p.Glu760Val E (Glu) > V (Val) 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 T= A
GRCh38.p14 chr 12 NC_000012.12:g.118160219= NC_000012.12:g.118160219T>A
GRCh37.p13 chr 12 NC_000012.11:g.118598024= NC_000012.11:g.118598024T>A
TAOK3 RefSeqGene NG_051835.1:g.217727= NG_051835.1:g.217727A>T
TAOK3 transcript variant 2 NM_016281.4:c.2279= NM_016281.4:c.2279A>T
TAOK3 transcript variant 2 NM_016281.3:c.2279= NM_016281.3:c.2279A>T
TAOK3 transcript variant 6 NM_001346491.2:c.1769= NM_001346491.2:c.1769A>T
TAOK3 transcript variant 6 NM_001346491.1:c.1769= NM_001346491.1:c.1769A>T
TAOK3 transcript variant 5 NM_001346490.2:c.1796= NM_001346490.2:c.1796A>T
TAOK3 transcript variant 5 NM_001346490.1:c.1796= NM_001346490.1:c.1796A>T
TAOK3 transcript variant 7 NM_001346492.2:c.1769= NM_001346492.2:c.1769A>T
TAOK3 transcript variant 7 NM_001346492.1:c.1769= NM_001346492.1:c.1769A>T
TAOK3 transcript variant 3 NM_001346488.2:c.2279= NM_001346488.2:c.2279A>T
TAOK3 transcript variant 3 NM_001346488.1:c.2279= NM_001346488.1:c.2279A>T
TAOK3 transcript variant 1 NM_001346487.2:c.2306= NM_001346487.2:c.2306A>T
TAOK3 transcript variant 1 NM_001346487.1:c.2306= NM_001346487.1:c.2306A>T
TAOK3 transcript variant 4 NM_001346489.2:c.2279= NM_001346489.2:c.2279A>T
TAOK3 transcript variant 4 NM_001346489.1:c.2279= NM_001346489.1:c.2279A>T
TAOK3 transcript variant 8 NM_001346493.2:c.1769= NM_001346493.2:c.1769A>T
TAOK3 transcript variant 8 NM_001346493.1:c.1769= NM_001346493.1:c.1769A>T
TAOK3 transcript variant 9 NM_001346494.2:c.899= NM_001346494.2:c.899A>T
TAOK3 transcript variant 9 NM_001346494.1:c.899= NM_001346494.1:c.899A>T
TAOK3 transcript variant 10 NM_001346495.2:c.899= NM_001346495.2:c.899A>T
TAOK3 transcript variant 10 NM_001346495.1:c.899= NM_001346495.1:c.899A>T
TAOK3 transcript variant 11 NM_001346496.2:c.899= NM_001346496.2:c.899A>T
TAOK3 transcript variant 11 NM_001346496.1:c.899= NM_001346496.1:c.899A>T
TAOK3 transcript variant 12 NM_001346497.2:c.899= NM_001346497.2:c.899A>T
TAOK3 transcript variant 12 NM_001346497.1:c.899= NM_001346497.1:c.899A>T
TAOK3 transcript variant X3 XM_006719445.4:c.2306= XM_006719445.4:c.2306A>T
TAOK3 transcript variant X3 XM_006719445.3:c.2306= XM_006719445.3:c.2306A>T
TAOK3 transcript variant X3 XM_006719445.2:c.2306= XM_006719445.2:c.2306A>T
TAOK3 transcript variant X3 XM_006719445.1:c.2306= XM_006719445.1:c.2306A>T
TAOK3 transcript variant X7 XM_017019408.3:c.2306= XM_017019408.3:c.2306A>T
TAOK3 transcript variant X5 XM_017019408.2:c.2306= XM_017019408.2:c.2306A>T
TAOK3 transcript variant X5 XM_017019408.1:c.2306= XM_017019408.1:c.2306A>T
TAOK3 transcript variant X6 XM_017019409.3:c.2306= XM_017019409.3:c.2306A>T
TAOK3 transcript variant X6 XM_017019409.2:c.2306= XM_017019409.2:c.2306A>T
TAOK3 transcript variant X6 XM_017019409.1:c.2306= XM_017019409.1:c.2306A>T
TAOK3 transcript variant X10 XM_017019410.3:c.2306= XM_017019410.3:c.2306A>T
TAOK3 transcript variant X7 XM_017019410.2:c.2306= XM_017019410.2:c.2306A>T
TAOK3 transcript variant X7 XM_017019410.1:c.2306= XM_017019410.1:c.2306A>T
TAOK3 transcript variant X4 XM_005253898.3:c.2306= XM_005253898.3:c.2306A>T
TAOK3 transcript variant X4 XM_005253898.2:c.2306= XM_005253898.2:c.2306A>T
TAOK3 transcript variant X4 XM_005253898.1:c.2306= XM_005253898.1:c.2306A>T
TAOK3 transcript variant X2 XM_011538437.3:c.2306= XM_011538437.3:c.2306A>T
TAOK3 transcript variant X2 XM_011538437.2:c.2306= XM_011538437.2:c.2306A>T
TAOK3 transcript variant X2 XM_011538437.1:c.2306= XM_011538437.1:c.2306A>T
TAOK3 transcript variant X1 XM_024449010.2:c.2306= XM_024449010.2:c.2306A>T
TAOK3 transcript variant X1 XM_024449010.1:c.2306= XM_024449010.1:c.2306A>T
TAOK3 transcript variant X20 XM_047428954.1:c.2279= XM_047428954.1:c.2279A>T
TAOK3 transcript variant X5 XM_047428941.1:c.2306= XM_047428941.1:c.2306A>T
TAOK3 transcript variant X14 XM_047428947.1:c.2279= XM_047428947.1:c.2279A>T
TAOK3 transcript variant X8 XM_047428942.1:c.2306= XM_047428942.1:c.2306A>T
TAOK3 transcript variant X9 XM_047428943.1:c.2306= XM_047428943.1:c.2306A>T
TAOK3 transcript variant X16 XM_047428950.1:c.2279= XM_047428950.1:c.2279A>T
TAOK3 transcript variant X19 XM_047428953.1:c.2279= XM_047428953.1:c.2279A>T
TAOK3 transcript variant X17 XM_047428951.1:c.2279= XM_047428951.1:c.2279A>T
TAOK3 transcript variant X18 XM_047428952.1:c.2279= XM_047428952.1:c.2279A>T
TAOK3 transcript variant X11 XM_047428944.1:c.2279= XM_047428944.1:c.2279A>T
TAOK3 transcript variant X13 XM_047428946.1:c.2279= XM_047428946.1:c.2279A>T
TAOK3 transcript variant X12 XM_047428945.1:c.2279= XM_047428945.1:c.2279A>T
TAOK3 transcript variant X15 XM_047428948.1:c.2279= XM_047428948.1:c.2279A>T
serine/threonine-protein kinase TAO3 isoform b NP_057365.3:p.Glu760= NP_057365.3:p.Glu760Val
serine/threonine-protein kinase TAO3 isoform d NP_001333420.1:p.Glu590= NP_001333420.1:p.Glu590Val
serine/threonine-protein kinase TAO3 isoform c NP_001333419.1:p.Glu599= NP_001333419.1:p.Glu599Val
serine/threonine-protein kinase TAO3 isoform d NP_001333421.1:p.Glu590= NP_001333421.1:p.Glu590Val
serine/threonine-protein kinase TAO3 isoform b NP_001333417.1:p.Glu760= NP_001333417.1:p.Glu760Val
serine/threonine-protein kinase TAO3 isoform a NP_001333416.1:p.Glu769= NP_001333416.1:p.Glu769Val
serine/threonine-protein kinase TAO3 isoform b NP_001333418.1:p.Glu760= NP_001333418.1:p.Glu760Val
serine/threonine-protein kinase TAO3 isoform e NP_001333422.1:p.Glu590= NP_001333422.1:p.Glu590Val
serine/threonine-protein kinase TAO3 isoform f NP_001333423.1:p.Glu300= NP_001333423.1:p.Glu300Val
serine/threonine-protein kinase TAO3 isoform f NP_001333424.1:p.Glu300= NP_001333424.1:p.Glu300Val
serine/threonine-protein kinase TAO3 isoform g NP_001333425.1:p.Glu300= NP_001333425.1:p.Glu300Val
serine/threonine-protein kinase TAO3 isoform g NP_001333426.1:p.Glu300= NP_001333426.1:p.Glu300Val
serine/threonine-protein kinase TAO3 isoform X1 XP_006719508.1:p.Glu769= XP_006719508.1:p.Glu769Val
serine/threonine-protein kinase TAO3 isoform X1 XP_016874897.1:p.Glu769= XP_016874897.1:p.Glu769Val
serine/threonine-protein kinase TAO3 isoform X1 XP_016874898.1:p.Glu769= XP_016874898.1:p.Glu769Val
serine/threonine-protein kinase TAO3 isoform X1 XP_016874899.1:p.Glu769= XP_016874899.1:p.Glu769Val
serine/threonine-protein kinase TAO3 isoform X1 XP_005253955.1:p.Glu769= XP_005253955.1:p.Glu769Val
serine/threonine-protein kinase TAO3 isoform X1 XP_011536739.1:p.Glu769= XP_011536739.1:p.Glu769Val
serine/threonine-protein kinase TAO3 isoform X1 XP_024304778.1:p.Glu769= XP_024304778.1:p.Glu769Val
serine/threonine-protein kinase TAO3 isoform X2 XP_047284910.1:p.Glu760= XP_047284910.1:p.Glu760Val
serine/threonine-protein kinase TAO3 isoform X1 XP_047284897.1:p.Glu769= XP_047284897.1:p.Glu769Val
serine/threonine-protein kinase TAO3 isoform X2 XP_047284903.1:p.Glu760= XP_047284903.1:p.Glu760Val
serine/threonine-protein kinase TAO3 isoform X1 XP_047284898.1:p.Glu769= XP_047284898.1:p.Glu769Val
serine/threonine-protein kinase TAO3 isoform X1 XP_047284899.1:p.Glu769= XP_047284899.1:p.Glu769Val
serine/threonine-protein kinase TAO3 isoform X2 XP_047284906.1:p.Glu760= XP_047284906.1:p.Glu760Val
serine/threonine-protein kinase TAO3 isoform X2 XP_047284909.1:p.Glu760= XP_047284909.1:p.Glu760Val
serine/threonine-protein kinase TAO3 isoform X2 XP_047284907.1:p.Glu760= XP_047284907.1:p.Glu760Val
serine/threonine-protein kinase TAO3 isoform X2 XP_047284908.1:p.Glu760= XP_047284908.1:p.Glu760Val
serine/threonine-protein kinase TAO3 isoform X2 XP_047284900.1:p.Glu760= XP_047284900.1:p.Glu760Val
serine/threonine-protein kinase TAO3 isoform X2 XP_047284902.1:p.Glu760= XP_047284902.1:p.Glu760Val
serine/threonine-protein kinase TAO3 isoform X2 XP_047284901.1:p.Glu760= XP_047284901.1:p.Glu760Val
serine/threonine-protein kinase TAO3 isoform X2 XP_047284904.1:p.Glu760= XP_047284904.1:p.Glu760Val
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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 ss4259906316 Apr 26, 2021 (155)
2 TOPMED ss4934524251 Apr 26, 2021 (155)
3 gnomAD - Genomes NC_000012.12 - 118160219 Apr 26, 2021 (155)
4 TopMed NC_000012.12 - 118160219 Apr 26, 2021 (155)
5 ALFA NC_000012.12 - 118160219 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
420818485, 150069908, 6084888305, ss4259906316, ss4934524251 NC_000012.12:118160218:T:A NC_000012.12:118160218:T:A (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 rs1438113018

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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