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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.

rs1469459452

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:15707943 (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=0.000011 (3/264690, TOPMED)
A=0.000007 (1/140306, GnomAD)
A=0.00007 (1/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ANKRD28 : Missense Variant
BTD : Intron 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=0.99993 A=0.00007 0.999858 0.0 0.000142 0
European Sub 9690 T=0.9999 A=0.0001 0.999794 0.0 0.000206 0
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=0.999989 A=0.000011
gnomAD - Genomes Global Study-wide 140306 T=0.999993 A=0.000007
gnomAD - Genomes European Sub 75972 T=0.99999 A=0.00001
gnomAD - Genomes African Sub 42068 T=1.00000 A=0.00000
gnomAD - Genomes American Sub 13658 T=1.00000 A=0.00000
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 2154 T=1.0000 A=0.0000
Allele Frequency Aggregator Total Global 14050 T=0.99993 A=0.00007
Allele Frequency Aggregator European Sub 9690 T=0.9999 A=0.0001
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 3 NC_000003.12:g.15707943T>A
GRCh37.p13 chr 3 NC_000003.11:g.15749450T>A
Gene: BTD, biotinidase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
BTD transcript variant 7 NM_001370752.1:c.1016-138…

NM_001370752.1:c.1016-13827T>A

 		N/A Intron Variant
BTD transcript variant 8 NM_001370753.1:c.400-2456…

NM_001370753.1:c.400-2456T>A

 		N/A Intron Variant
BTD transcript variant 1 NM_001281723.3:c. N/A Genic Downstream Transcript Variant
BTD transcript variant 2 NM_001281724.3:c. N/A Genic Downstream Transcript Variant
BTD transcript variant 4 NM_001281725.2:c. N/A Genic Downstream Transcript Variant
BTD transcript variant 5 NM_001281726.2:c. N/A Genic Downstream Transcript Variant
BTD transcript variant 6 NM_001323582.1:c. N/A Genic Downstream Transcript Variant
BTD transcript variant 3 NM_001370658.1:c. N/A Genic Downstream Transcript Variant
Gene: ANKRD28, ankyrin repeat domain 28 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ANKRD28 transcript variant 11 NM_001349284.2:c. N/A Genic Downstream Transcript Variant
ANKRD28 transcript variant 12 NM_001349285.2:c. N/A Genic Downstream Transcript Variant
ANKRD28 transcript variant 2 NM_001195098.1:c.976A>T T [ACA] > S [TCA] Coding Sequence Variant
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform b NP_001182027.1:p.Thr326Ser T (Thr) > S (Ser) Missense Variant
ANKRD28 transcript variant 7 NM_001349280.1:c.1270A>T T [ACA] > S [TCA] Coding Sequence Variant
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform f NP_001336209.1:p.Thr424Ser T (Thr) > S (Ser) Missense Variant
ANKRD28 transcript variant 1 NM_015199.4:c.1438A>T T [ACA] > S [TCA] Coding Sequence Variant
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform a NP_056014.2:p.Thr480Ser T (Thr) > S (Ser) Missense Variant
ANKRD28 transcript variant 5 NM_001349278.2:c.1528A>T T [ACA] > S [TCA] Coding Sequence Variant
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform d NP_001336207.1:p.Thr510Ser T (Thr) > S (Ser) Missense Variant
ANKRD28 transcript variant 3 NM_001195099.2:c.976A>T T [ACA] > S [TCA] Coding Sequence Variant
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform b NP_001182028.1:p.Thr326Ser T (Thr) > S (Ser) Missense Variant
ANKRD28 transcript variant 9 NM_001349282.2:c.1270A>T T [ACA] > S [TCA] Coding Sequence Variant
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform f NP_001336211.1:p.Thr424Ser T (Thr) > S (Ser) Missense Variant
ANKRD28 transcript variant 4 NM_001349277.2:c.1537A>T T [ACA] > S [TCA] Coding Sequence Variant
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform c NP_001336206.1:p.Thr513Ser T (Thr) > S (Ser) Missense Variant
ANKRD28 transcript variant 6 NM_001349279.2:c.1429A>T T [ACA] > S [TCA] Coding Sequence Variant
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform e NP_001336208.1:p.Thr477Ser T (Thr) > S (Ser) Missense Variant
ANKRD28 transcript variant 10 NM_001349283.2:c.976A>T T [ACA] > S [TCA] Coding Sequence Variant
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform b NP_001336212.1:p.Thr326Ser T (Thr) > S (Ser) Missense Variant
ANKRD28 transcript variant 8 NM_001349281.2:c.1270A>T T [ACA] > S [TCA] Coding Sequence Variant
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform f NP_001336210.1:p.Thr424Ser T (Thr) > S (Ser) Missense Variant
ANKRD28 transcript variant 13 NR_146111.1:n.1580A>T N/A Non Coding Transcript Variant
ANKRD28 transcript variant 14 NR_146112.2:n.2986A>T N/A Non Coding Transcript Variant
ANKRD28 transcript variant X2 XM_024453418.2:c.1480A>T T [ACA] > S [TCA] Coding Sequence Variant
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X1 XP_024309186.1:p.Thr494Ser T (Thr) > S (Ser) Missense Variant
ANKRD28 transcript variant X3 XM_024453419.2:c.1471A>T T [ACA] > S [TCA] Coding Sequence Variant
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X2 XP_024309187.1:p.Thr491Ser T (Thr) > S (Ser) Missense Variant
ANKRD28 transcript variant X5 XM_047447800.1:c.1537A>T T [ACA] > S [TCA] Coding Sequence Variant
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X3 XP_047303756.1:p.Thr513Ser T (Thr) > S (Ser) Missense Variant
ANKRD28 transcript variant X6 XM_011533542.4:c.1354A>T T [ACA] > S [TCA] Coding Sequence Variant
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X4 XP_011531844.1:p.Thr452Ser T (Thr) > S (Ser) Missense Variant
ANKRD28 transcript variant X7 XM_047447801.1:c.1528A>T T [ACA] > S [TCA] Coding Sequence Variant
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X5 XP_047303757.1:p.Thr510Ser T (Thr) > S (Ser) Missense Variant
ANKRD28 transcript variant X8 XM_047447802.1:c.1336A>T T [ACA] > S [TCA] Coding Sequence Variant
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X6 XP_047303758.1:p.Thr446Ser T (Thr) > S (Ser) Missense Variant
ANKRD28 transcript variant X9 XM_047447803.1:c.1327A>T T [ACA] > S [TCA] Coding Sequence Variant
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X7 XP_047303759.1:p.Thr443Ser T (Thr) > S (Ser) Missense Variant
ANKRD28 transcript variant X10 XM_047447804.1:c.1270A>T T [ACA] > S [TCA] Coding Sequence Variant
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X8 XP_047303760.1:p.Thr424Ser T (Thr) > S (Ser) Missense Variant
ANKRD28 transcript variant X11 XM_047447805.1:c.1270A>T T [ACA] > S [TCA] Coding Sequence Variant
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X8 XP_047303761.1:p.Thr424Ser T (Thr) > S (Ser) Missense Variant
ANKRD28 transcript variant X12 XM_024453424.2:c.1270A>T T [ACA] > S [TCA] Coding Sequence Variant
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X8 XP_024309192.1:p.Thr424Ser T (Thr) > S (Ser) Missense Variant
ANKRD28 transcript variant X13 XM_011533547.4:c.1270A>T T [ACA] > S [TCA] Coding Sequence Variant
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X8 XP_011531849.1:p.Thr424Ser T (Thr) > S (Ser) Missense Variant
ANKRD28 transcript variant X14 XM_024453422.2:c.1270A>T T [ACA] > S [TCA] Coding Sequence Variant
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X8 XP_024309190.1:p.Thr424Ser T (Thr) > S (Ser) Missense Variant
ANKRD28 transcript variant X15 XM_047447806.1:c.1438A>T T [ACA] > S [TCA] Coding Sequence Variant
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X9 XP_047303762.1:p.Thr480Ser T (Thr) > S (Ser) Missense Variant
ANKRD28 transcript variant X16 XM_047447807.1:c.1252A>T T [ACA] > S [TCA] Coding Sequence Variant
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X10 XP_047303763.1:p.Thr418Ser T (Thr) > S (Ser) Missense Variant
ANKRD28 transcript variant X17 XM_047447808.1:c.1429A>T T [ACA] > S [TCA] Coding Sequence Variant
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X11 XP_047303764.1:p.Thr477Ser T (Thr) > S (Ser) Missense Variant
ANKRD28 transcript variant X18 XM_047447809.1:c.1237A>T T [ACA] > S [TCA] Coding Sequence Variant
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X12 XP_047303765.1:p.Thr413Ser T (Thr) > S (Ser) Missense Variant
ANKRD28 transcript variant X19 XM_047447810.1:c.1228A>T T [ACA] > S [TCA] Coding Sequence Variant
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X13 XP_047303766.1:p.Thr410Ser T (Thr) > S (Ser) Missense Variant
ANKRD28 transcript variant X20 XM_047447811.1:c.1537A>T T [ACA] > S [TCA] Coding Sequence Variant
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X14 XP_047303767.1:p.Thr513Ser T (Thr) > S (Ser) Missense Variant
ANKRD28 transcript variant X21 XM_047447812.1:c.1537A>T T [ACA] > S [TCA] Coding Sequence Variant
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X15 XP_047303768.1:p.Thr513Ser T (Thr) > S (Ser) Missense Variant
ANKRD28 transcript variant X22 XM_047447813.1:c.976A>T T [ACA] > S [TCA] Coding Sequence Variant
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X16 XP_047303769.1:p.Thr326Ser T (Thr) > S (Ser) Missense Variant
ANKRD28 transcript variant X1 XR_007095652.1:n.2995A>T N/A Non Coding Transcript Variant
ANKRD28 transcript variant X4 XR_007095653.1:n.1849A>T 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
GRCh38.p14 chr 3 NC_000003.12:g.15707943= NC_000003.12:g.15707943T>A
GRCh37.p13 chr 3 NC_000003.11:g.15749450= NC_000003.11:g.15749450T>A
ANKRD28 transcript variant X13 XM_011533547.4:c.1270= XM_011533547.4:c.1270A>T
ANKRD28 transcript variant X9 XM_011533547.3:c.1270= XM_011533547.3:c.1270A>T
ANKRD28 transcript variant X10 XM_011533547.2:c.1270= XM_011533547.2:c.1270A>T
ANKRD28 transcript variant X9 XM_011533547.1:c.1270= XM_011533547.1:c.1270A>T
ANKRD28 transcript variant 1 NM_015199.4:c.1438= NM_015199.4:c.1438A>T
ANKRD28 transcript variant 1 NM_015199.3:c.1438= NM_015199.3:c.1438A>T
ANKRD28 transcript variant X6 XM_011533542.4:c.1354= XM_011533542.4:c.1354A>T
ANKRD28 transcript variant X7 XM_011533542.3:c.1354= XM_011533542.3:c.1354A>T
ANKRD28 transcript variant X6 XM_011533542.2:c.1354= XM_011533542.2:c.1354A>T
ANKRD28 transcript variant X4 XM_011533542.1:c.1354= XM_011533542.1:c.1354A>T
ANKRD28 transcript variant 4 NM_001349277.2:c.1537= NM_001349277.2:c.1537A>T
ANKRD28 transcript variant 4 NM_001349277.1:c.1537= NM_001349277.1:c.1537A>T
ANKRD28 transcript variant 5 NM_001349278.2:c.1528= NM_001349278.2:c.1528A>T
ANKRD28 transcript variant 5 NM_001349278.1:c.1528= NM_001349278.1:c.1528A>T
ANKRD28 transcript variant 10 NM_001349283.2:c.976= NM_001349283.2:c.976A>T
ANKRD28 transcript variant 10 NM_001349283.1:c.976= NM_001349283.1:c.976A>T
ANKRD28 transcript variant 9 NM_001349282.2:c.1270= NM_001349282.2:c.1270A>T
ANKRD28 transcript variant 9 NM_001349282.1:c.1270= NM_001349282.1:c.1270A>T
ANKRD28 transcript variant 8 NM_001349281.2:c.1270= NM_001349281.2:c.1270A>T
ANKRD28 transcript variant 8 NM_001349281.1:c.1270= NM_001349281.1:c.1270A>T
ANKRD28 transcript variant X2 XM_024453418.2:c.1480= XM_024453418.2:c.1480A>T
ANKRD28 transcript variant X1 XM_024453418.1:c.1480= XM_024453418.1:c.1480A>T
ANKRD28 transcript variant X3 XM_024453419.2:c.1471= XM_024453419.2:c.1471A>T
ANKRD28 transcript variant X3 XM_024453419.1:c.1471= XM_024453419.1:c.1471A>T
ANKRD28 transcript variant 6 NM_001349279.2:c.1429= NM_001349279.2:c.1429A>T
ANKRD28 transcript variant 6 NM_001349279.1:c.1429= NM_001349279.1:c.1429A>T
ANKRD28 transcript variant X14 XM_024453422.2:c.1270= XM_024453422.2:c.1270A>T
ANKRD28 transcript variant X10 XM_024453422.1:c.1270= XM_024453422.1:c.1270A>T
ANKRD28 transcript variant X12 XM_024453424.2:c.1270= XM_024453424.2:c.1270A>T
ANKRD28 transcript variant X12 XM_024453424.1:c.1270= XM_024453424.1:c.1270A>T
ANKRD28 transcript variant 3 NM_001195099.2:c.976= NM_001195099.2:c.976A>T
ANKRD28 transcript variant 3 NM_001195099.1:c.976= NM_001195099.1:c.976A>T
ANKRD28 transcript variant 14 NR_146112.2:n.2986= NR_146112.2:n.2986A>T
ANKRD28 transcript variant 14 NR_146112.1:n.3191= NR_146112.1:n.3191A>T
ANKRD28 transcript variant X8 XM_047447802.1:c.1336= XM_047447802.1:c.1336A>T
ANKRD28 transcript variant X9 XM_047447803.1:c.1327= XM_047447803.1:c.1327A>T
ANKRD28 transcript variant X19 XM_047447810.1:c.1228= XM_047447810.1:c.1228A>T
ANKRD28 transcript variant X16 XM_047447807.1:c.1252= XM_047447807.1:c.1252A>T
ANKRD28 transcript variant X18 XM_047447809.1:c.1237= XM_047447809.1:c.1237A>T
ANKRD28 transcript variant 2 NM_001195098.1:c.976= NM_001195098.1:c.976A>T
ANKRD28 transcript variant X10 XM_047447804.1:c.1270= XM_047447804.1:c.1270A>T
ANKRD28 transcript variant X11 XM_047447805.1:c.1270= XM_047447805.1:c.1270A>T
ANKRD28 transcript variant 7 NM_001349280.1:c.1270= NM_001349280.1:c.1270A>T
ANKRD28 transcript variant X5 XM_047447800.1:c.1537= XM_047447800.1:c.1537A>T
ANKRD28 transcript variant X7 XM_047447801.1:c.1528= XM_047447801.1:c.1528A>T
ANKRD28 transcript variant X22 XM_047447813.1:c.976= XM_047447813.1:c.976A>T
ANKRD28 transcript variant X1 XR_007095652.1:n.2995= XR_007095652.1:n.2995A>T
ANKRD28 transcript variant X17 XM_047447808.1:c.1429= XM_047447808.1:c.1429A>T
ANKRD28 transcript variant X15 XM_047447806.1:c.1438= XM_047447806.1:c.1438A>T
ANKRD28 transcript variant X4 XR_007095653.1:n.1849= XR_007095653.1:n.1849A>T
ANKRD28 transcript variant 13 NR_146111.1:n.1580= NR_146111.1:n.1580A>T
ANKRD28 transcript variant X20 XM_047447811.1:c.1537= XM_047447811.1:c.1537A>T
ANKRD28 transcript variant X21 XM_047447812.1:c.1537= XM_047447812.1:c.1537A>T
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X8 XP_011531849.1:p.Thr424= XP_011531849.1:p.Thr424Ser
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform a NP_056014.2:p.Thr480= NP_056014.2:p.Thr480Ser
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X4 XP_011531844.1:p.Thr452= XP_011531844.1:p.Thr452Ser
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform c NP_001336206.1:p.Thr513= NP_001336206.1:p.Thr513Ser
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform d NP_001336207.1:p.Thr510= NP_001336207.1:p.Thr510Ser
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform b NP_001336212.1:p.Thr326= NP_001336212.1:p.Thr326Ser
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform f NP_001336211.1:p.Thr424= NP_001336211.1:p.Thr424Ser
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform f NP_001336210.1:p.Thr424= NP_001336210.1:p.Thr424Ser
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X1 XP_024309186.1:p.Thr494= XP_024309186.1:p.Thr494Ser
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X2 XP_024309187.1:p.Thr491= XP_024309187.1:p.Thr491Ser
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform e NP_001336208.1:p.Thr477= NP_001336208.1:p.Thr477Ser
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X8 XP_024309190.1:p.Thr424= XP_024309190.1:p.Thr424Ser
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X8 XP_024309192.1:p.Thr424= XP_024309192.1:p.Thr424Ser
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform b NP_001182028.1:p.Thr326= NP_001182028.1:p.Thr326Ser
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X6 XP_047303758.1:p.Thr446= XP_047303758.1:p.Thr446Ser
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X7 XP_047303759.1:p.Thr443= XP_047303759.1:p.Thr443Ser
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X13 XP_047303766.1:p.Thr410= XP_047303766.1:p.Thr410Ser
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X10 XP_047303763.1:p.Thr418= XP_047303763.1:p.Thr418Ser
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X12 XP_047303765.1:p.Thr413= XP_047303765.1:p.Thr413Ser
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform b NP_001182027.1:p.Thr326= NP_001182027.1:p.Thr326Ser
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X8 XP_047303760.1:p.Thr424= XP_047303760.1:p.Thr424Ser
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X8 XP_047303761.1:p.Thr424= XP_047303761.1:p.Thr424Ser
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform f NP_001336209.1:p.Thr424= NP_001336209.1:p.Thr424Ser
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X3 XP_047303756.1:p.Thr513= XP_047303756.1:p.Thr513Ser
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X5 XP_047303757.1:p.Thr510= XP_047303757.1:p.Thr510Ser
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X16 XP_047303769.1:p.Thr326= XP_047303769.1:p.Thr326Ser
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X11 XP_047303764.1:p.Thr477= XP_047303764.1:p.Thr477Ser
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X9 XP_047303762.1:p.Thr480= XP_047303762.1:p.Thr480Ser
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X14 XP_047303767.1:p.Thr513= XP_047303767.1:p.Thr513Ser
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X15 XP_047303768.1:p.Thr513= XP_047303768.1:p.Thr513Ser
BTD transcript variant 7 NM_001370752.1:c.1016-13827= NM_001370752.1:c.1016-13827T>A
BTD transcript variant 8 NM_001370753.1:c.400-2456= NM_001370753.1:c.400-2456T>A
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Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

2 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss4066396681 Apr 27, 2021 (155)
2 TOPMED ss4555311847 Apr 27, 2021 (155)
3 gnomAD - Genomes NC_000003.12 - 15707943 Apr 27, 2021 (155)
4 TopMed NC_000003.12 - 15707943 Apr 27, 2021 (155)
5 ALFA NC_000003.12 - 15707943 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
99962542, 392689402, 1420420654, ss4066396681, ss4555311847 NC_000003.12:15707942:T:A NC_000003.12:15707942: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 rs1469459452

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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