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dbSNP Short Genetic Variations

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.

rs370495535

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr15:42777166 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
C>A / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000083 (22/264690, TOPMED)
T=0.000056 (14/249336, GnomAD_exome)
T=0.000057 (8/140220, GnomAD) (+ 7 more)
T=0.000083 (10/120512, ExAC)
T=0.00011 (4/35802, ALFA)
A=0.00004 (1/28258, 14KJPN)
A=0.00006 (1/16760, 8.3KJPN)
T=0.00025 (3/12166, GO-ESP)
T=0.004 (2/534, MGP)
T=0.014 (3/216, Qatari)
Clinical Significance
Reported in ClinVar
Gene : Consequence
TTBK2 : 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 52160 C=0.99988 T=0.00012
European Sub 36808 C=0.99986 T=0.00014
African Sub 7804 C=1.0000 T=0.0000
African Others Sub 298 C=1.000 T=0.000
African American Sub 7506 C=1.0000 T=0.0000
Asian Sub 112 C=1.000 T=0.000
East Asian Sub 86 C=1.00 T=0.00
Other Asian Sub 26 C=1.00 T=0.00
Latin American 1 Sub 500 C=0.998 T=0.002
Latin American 2 Sub 628 C=1.000 T=0.000
South Asian Sub 98 C=1.00 T=0.00
Other Sub 6210 C=1.0000 T=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 C=0.999917 T=0.000083
gnomAD - Exomes Global Study-wide 249336 C=0.999944 T=0.000056
gnomAD - Exomes European Sub 134636 C=0.999903 T=0.000097
gnomAD - Exomes Asian Sub 48570 C=1.00000 T=0.00000
gnomAD - Exomes American Sub 34522 C=1.00000 T=0.00000
gnomAD - Exomes African Sub 15484 C=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10064 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6060 C=0.9998 T=0.0002
gnomAD - Genomes Global Study-wide 140220 C=0.999943 T=0.000057
gnomAD - Genomes European Sub 75946 C=0.99991 T=0.00009
gnomAD - Genomes African Sub 42026 C=1.00000 T=0.00000
gnomAD - Genomes American Sub 13644 C=0.99993 T=0.00007
gnomAD - Genomes Ashkenazi Jewish Sub 3320 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3130 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2154 C=1.0000 T=0.0000
ExAC Global Study-wide 120512 C=0.999917 T=0.000083
ExAC Europe Sub 73230 C=0.99986 T=0.00014
ExAC Asian Sub 25090 C=1.00000 T=0.00000
ExAC American Sub 11534 C=1.00000 T=0.00000
ExAC African Sub 9762 C=1.0000 T=0.0000
ExAC Other Sub 896 C=1.000 T=0.000
Allele Frequency Aggregator Total Global 35802 C=0.99989 T=0.00011
Allele Frequency Aggregator European Sub 26722 C=0.99989 T=0.00011
Allele Frequency Aggregator Other Sub 4776 C=1.0000 T=0.0000
Allele Frequency Aggregator African Sub 2966 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 628 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 500 C=0.998 T=0.002
Allele Frequency Aggregator Asian Sub 112 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 T=0.00
14KJPN JAPANESE Study-wide 28258 C=0.99996 A=0.00004
8.3KJPN JAPANESE Study-wide 16760 C=0.99994 A=0.00006
GO Exome Sequencing Project Global Study-wide 12166 C=0.99975 T=0.00025
GO Exome Sequencing Project European American Sub 8294 C=0.9996 T=0.0004
GO Exome Sequencing Project African American Sub 3872 C=1.0000 T=0.0000
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.996 T=0.004
Qatari Global Study-wide 216 C=0.986 T=0.014
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 15 NC_000015.10:g.42777166C>A
GRCh38.p14 chr 15 NC_000015.10:g.42777166C>T
GRCh37.p13 chr 15 NC_000015.9:g.43069364C>A
GRCh37.p13 chr 15 NC_000015.9:g.43069364C>T
TTBK2 RefSeqGene NG_012664.1:g.148644G>T
TTBK2 RefSeqGene NG_012664.1:g.148644G>A
Gene: TTBK2, tau tubulin kinase 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TTBK2 transcript NM_173500.4:c.1274G>T R [CGT] > L [CTT] Coding Sequence Variant
tau-tubulin kinase 2 NP_775771.3:p.Arg425Leu R (Arg) > L (Leu) Missense Variant
TTBK2 transcript NM_173500.4:c.1274G>A R [CGT] > H [CAT] Coding Sequence Variant
tau-tubulin kinase 2 NP_775771.3:p.Arg425His R (Arg) > H (His) Missense Variant
TTBK2 transcript variant X1 XM_005254171.6:c.1292G>T R [CGT] > L [CTT] Coding Sequence Variant
tau-tubulin kinase 2 isoform X1 XP_005254228.1:p.Arg431Leu R (Arg) > L (Leu) Missense Variant
TTBK2 transcript variant X1 XM_005254171.6:c.1292G>A R [CGT] > H [CAT] Coding Sequence Variant
tau-tubulin kinase 2 isoform X1 XP_005254228.1:p.Arg431His R (Arg) > H (His) Missense Variant
TTBK2 transcript variant X2 XM_047432189.1:c.1274G>T R [CGT] > L [CTT] Coding Sequence Variant
tau-tubulin kinase 2 isoform X2 XP_047288145.1:p.Arg425Leu R (Arg) > L (Leu) Missense Variant
TTBK2 transcript variant X2 XM_047432189.1:c.1274G>A R [CGT] > H [CAT] Coding Sequence Variant
tau-tubulin kinase 2 isoform X2 XP_047288145.1:p.Arg425His R (Arg) > H (His) Missense Variant
TTBK2 transcript variant X3 XM_047432190.1:c.1274G>T R [CGT] > L [CTT] Coding Sequence Variant
tau-tubulin kinase 2 isoform X2 XP_047288146.1:p.Arg425Leu R (Arg) > L (Leu) Missense Variant
TTBK2 transcript variant X3 XM_047432190.1:c.1274G>A R [CGT] > H [CAT] Coding Sequence Variant
tau-tubulin kinase 2 isoform X2 XP_047288146.1:p.Arg425His R (Arg) > H (His) Missense Variant
TTBK2 transcript variant X4 XM_047432191.1:c.1274G>T R [CGT] > L [CTT] Coding Sequence Variant
tau-tubulin kinase 2 isoform X2 XP_047288147.1:p.Arg425Leu R (Arg) > L (Leu) Missense Variant
TTBK2 transcript variant X4 XM_047432191.1:c.1274G>A R [CGT] > H [CAT] Coding Sequence Variant
tau-tubulin kinase 2 isoform X2 XP_047288147.1:p.Arg425His R (Arg) > H (His) Missense Variant
TTBK2 transcript variant X5 XM_006720402.5:c.1259G>T R [CGT] > L [CTT] Coding Sequence Variant
tau-tubulin kinase 2 isoform X3 XP_006720465.1:p.Arg420Leu R (Arg) > L (Leu) Missense Variant
TTBK2 transcript variant X5 XM_006720402.5:c.1259G>A R [CGT] > H [CAT] Coding Sequence Variant
tau-tubulin kinase 2 isoform X3 XP_006720465.1:p.Arg420His R (Arg) > H (His) Missense Variant
TTBK2 transcript variant X6 XM_006720403.5:c.1067G>T R [CGT] > L [CTT] Coding Sequence Variant
tau-tubulin kinase 2 isoform X4 XP_006720466.1:p.Arg356Leu R (Arg) > L (Leu) Missense Variant
TTBK2 transcript variant X6 XM_006720403.5:c.1067G>A R [CGT] > H [CAT] Coding Sequence Variant
tau-tubulin kinase 2 isoform X4 XP_006720466.1:p.Arg356His R (Arg) > H (His) Missense Variant
TTBK2 transcript variant X7 XM_017021950.3:c.995G>T R [CGT] > L [CTT] Coding Sequence Variant
tau-tubulin kinase 2 isoform X5 XP_016877439.1:p.Arg332Leu R (Arg) > L (Leu) Missense Variant
TTBK2 transcript variant X7 XM_017021950.3:c.995G>A R [CGT] > H [CAT] Coding Sequence Variant
tau-tubulin kinase 2 isoform X5 XP_016877439.1:p.Arg332His R (Arg) > H (His) Missense Variant
TTBK2 transcript variant X8 XM_005254173.6:c.1067G>T R [CGT] > L [CTT] Coding Sequence Variant
tau-tubulin kinase 2 isoform X6 XP_005254230.1:p.Arg356Leu R (Arg) > L (Leu) Missense Variant
TTBK2 transcript variant X8 XM_005254173.6:c.1067G>A R [CGT] > H [CAT] Coding Sequence Variant
tau-tubulin kinase 2 isoform X6 XP_005254230.1:p.Arg356His R (Arg) > H (His) Missense Variant
TTBK2 transcript variant X9 XM_047432192.1:c.119G>T R [CGT] > L [CTT] Coding Sequence Variant
tau-tubulin kinase 2 isoform X7 XP_047288148.1:p.Arg40Leu R (Arg) > L (Leu) Missense Variant
TTBK2 transcript variant X9 XM_047432192.1:c.119G>A R [CGT] > H [CAT] Coding Sequence Variant
tau-tubulin kinase 2 isoform X7 XP_047288148.1:p.Arg40His R (Arg) > H (His) 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.

Allele: T (allele ID: 441737 )
ClinVar Accession Disease Names Clinical Significance
RCV001644620.2 not specified Likely-Benign
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement C= A T
GRCh38.p14 chr 15 NC_000015.10:g.42777166= NC_000015.10:g.42777166C>A NC_000015.10:g.42777166C>T
GRCh37.p13 chr 15 NC_000015.9:g.43069364= NC_000015.9:g.43069364C>A NC_000015.9:g.43069364C>T
TTBK2 RefSeqGene NG_012664.1:g.148644= NG_012664.1:g.148644G>T NG_012664.1:g.148644G>A
TTBK2 transcript NM_173500.4:c.1274= NM_173500.4:c.1274G>T NM_173500.4:c.1274G>A
TTBK2 transcript NM_173500.3:c.1274= NM_173500.3:c.1274G>T NM_173500.3:c.1274G>A
TTBK2 transcript variant X1 XM_005254171.6:c.1292= XM_005254171.6:c.1292G>T XM_005254171.6:c.1292G>A
TTBK2 transcript variant X1 XM_005254171.5:c.1292= XM_005254171.5:c.1292G>T XM_005254171.5:c.1292G>A
TTBK2 transcript variant X1 XM_005254171.4:c.1292= XM_005254171.4:c.1292G>T XM_005254171.4:c.1292G>A
TTBK2 transcript variant X1 XM_005254171.3:c.1292= XM_005254171.3:c.1292G>T XM_005254171.3:c.1292G>A
TTBK2 transcript variant X1 XM_005254171.2:c.1292= XM_005254171.2:c.1292G>T XM_005254171.2:c.1292G>A
TTBK2 transcript variant X1 XM_005254171.1:c.1292= XM_005254171.1:c.1292G>T XM_005254171.1:c.1292G>A
TTBK2 transcript variant X8 XM_005254173.6:c.1067= XM_005254173.6:c.1067G>T XM_005254173.6:c.1067G>A
TTBK2 transcript variant X7 XM_005254173.5:c.1067= XM_005254173.5:c.1067G>T XM_005254173.5:c.1067G>A
TTBK2 transcript variant X4 XM_005254173.4:c.1067= XM_005254173.4:c.1067G>T XM_005254173.4:c.1067G>A
TTBK2 transcript variant X3 XM_005254173.3:c.1067= XM_005254173.3:c.1067G>T XM_005254173.3:c.1067G>A
TTBK2 transcript variant X3 XM_005254173.2:c.1067= XM_005254173.2:c.1067G>T XM_005254173.2:c.1067G>A
TTBK2 transcript variant X3 XM_005254173.1:c.1067= XM_005254173.1:c.1067G>T XM_005254173.1:c.1067G>A
TTBK2 transcript variant X5 XM_006720402.5:c.1259= XM_006720402.5:c.1259G>T XM_006720402.5:c.1259G>A
TTBK2 transcript variant X4 XM_006720402.4:c.1259= XM_006720402.4:c.1259G>T XM_006720402.4:c.1259G>A
TTBK2 transcript variant X2 XM_006720402.3:c.1259= XM_006720402.3:c.1259G>T XM_006720402.3:c.1259G>A
TTBK2 transcript variant X2 XM_006720402.2:c.1259= XM_006720402.2:c.1259G>T XM_006720402.2:c.1259G>A
TTBK2 transcript variant X4 XM_006720402.1:c.1259= XM_006720402.1:c.1259G>T XM_006720402.1:c.1259G>A
TTBK2 transcript variant X6 XM_006720403.5:c.1067= XM_006720403.5:c.1067G>T XM_006720403.5:c.1067G>A
TTBK2 transcript variant X6 XM_006720403.4:c.1067= XM_006720403.4:c.1067G>T XM_006720403.4:c.1067G>A
TTBK2 transcript variant X3 XM_006720403.3:c.1067= XM_006720403.3:c.1067G>T XM_006720403.3:c.1067G>A
TTBK2 transcript variant X5 XM_006720403.2:c.1067= XM_006720403.2:c.1067G>T XM_006720403.2:c.1067G>A
TTBK2 transcript variant X5 XM_006720403.1:c.1067= XM_006720403.1:c.1067G>T XM_006720403.1:c.1067G>A
TTBK2 transcript variant X7 XM_017021950.3:c.995= XM_017021950.3:c.995G>T XM_017021950.3:c.995G>A
TTBK2 transcript variant X8 XM_017021950.2:c.995= XM_017021950.2:c.995G>T XM_017021950.2:c.995G>A
TTBK2 transcript variant X5 XM_017021950.1:c.995= XM_017021950.1:c.995G>T XM_017021950.1:c.995G>A
TTBK2 transcript variant X9 XM_047432192.1:c.119= XM_047432192.1:c.119G>T XM_047432192.1:c.119G>A
TTBK2 transcript variant X2 XM_047432189.1:c.1274= XM_047432189.1:c.1274G>T XM_047432189.1:c.1274G>A
TTBK2 transcript variant X4 XM_047432191.1:c.1274= XM_047432191.1:c.1274G>T XM_047432191.1:c.1274G>A
TTBK2 transcript variant X3 XM_047432190.1:c.1274= XM_047432190.1:c.1274G>T XM_047432190.1:c.1274G>A
tau-tubulin kinase 2 NP_775771.3:p.Arg425= NP_775771.3:p.Arg425Leu NP_775771.3:p.Arg425His
tau-tubulin kinase 2 isoform X1 XP_005254228.1:p.Arg431= XP_005254228.1:p.Arg431Leu XP_005254228.1:p.Arg431His
tau-tubulin kinase 2 isoform X6 XP_005254230.1:p.Arg356= XP_005254230.1:p.Arg356Leu XP_005254230.1:p.Arg356His
tau-tubulin kinase 2 isoform X3 XP_006720465.1:p.Arg420= XP_006720465.1:p.Arg420Leu XP_006720465.1:p.Arg420His
tau-tubulin kinase 2 isoform X4 XP_006720466.1:p.Arg356= XP_006720466.1:p.Arg356Leu XP_006720466.1:p.Arg356His
tau-tubulin kinase 2 isoform X5 XP_016877439.1:p.Arg332= XP_016877439.1:p.Arg332Leu XP_016877439.1:p.Arg332His
tau-tubulin kinase 2 isoform X7 XP_047288148.1:p.Arg40= XP_047288148.1:p.Arg40Leu XP_047288148.1:p.Arg40His
tau-tubulin kinase 2 isoform X2 XP_047288145.1:p.Arg425= XP_047288145.1:p.Arg425Leu XP_047288145.1:p.Arg425His
tau-tubulin kinase 2 isoform X2 XP_047288147.1:p.Arg425= XP_047288147.1:p.Arg425Leu XP_047288147.1:p.Arg425His
tau-tubulin kinase 2 isoform X2 XP_047288146.1:p.Arg425= XP_047288146.1:p.Arg425Leu XP_047288146.1:p.Arg425His
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#.

16 SubSNP, 10 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss713224603 Apr 25, 2013 (138)
2 EVA_EXAC ss1691789859 Apr 01, 2015 (144)
3 EVA_MGP ss1711395266 Apr 01, 2015 (144)
4 WEILL_CORNELL_DGM ss1935129826 Feb 12, 2016 (147)
5 HUMAN_LONGEVITY ss2206279428 Dec 20, 2016 (150)
6 GNOMAD ss2741184934 Nov 08, 2017 (151)
7 GNOMAD ss2749287397 Nov 08, 2017 (151)
8 GNOMAD ss2934176593 Nov 08, 2017 (151)
9 EVA ss3824911688 Apr 27, 2020 (154)
10 EVA ss3825857724 Apr 27, 2020 (154)
11 FSA-LAB ss3984071756 Apr 26, 2021 (155)
12 TOPMED ss4989145813 Apr 26, 2021 (155)
13 TOMMO_GENOMICS ss5215899072 Apr 26, 2021 (155)
14 EVA ss5418839574 Oct 16, 2022 (156)
15 TOMMO_GENOMICS ss5769617326 Oct 16, 2022 (156)
16 EVA ss5828121113 Oct 16, 2022 (156)
17 ExAC NC_000015.9 - 43069364 Oct 12, 2018 (152)
18 gnomAD - Genomes NC_000015.10 - 42777166 Apr 26, 2021 (155)
19 gnomAD - Exomes NC_000015.9 - 43069364 Jul 13, 2019 (153)
20 GO Exome Sequencing Project NC_000015.9 - 43069364 Oct 12, 2018 (152)
21 Medical Genome Project healthy controls from Spanish population NC_000015.9 - 43069364 Apr 27, 2020 (154)
22 Qatari NC_000015.9 - 43069364 Apr 27, 2020 (154)
23 8.3KJPN NC_000015.9 - 43069364 Apr 26, 2021 (155)
24 14KJPN NC_000015.10 - 42777166 Oct 16, 2022 (156)
25 TopMed NC_000015.10 - 42777166 Apr 26, 2021 (155)
26 ALFA NC_000015.10 - 42777166 Apr 26, 2021 (155)
27 ClinVar RCV001644620.2 Oct 16, 2022 (156)
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
73868379, ss5215899072 NC_000015.9:43069363:C:A NC_000015.10:42777165:C:A (self)
103454430, ss5769617326 NC_000015.10:42777165:C:A NC_000015.10:42777165:C:A
2160381, 10448349, 1368961, 511026, 17171756, ss713224603, ss1691789859, ss1711395266, ss1935129826, ss2741184934, ss2749287397, ss2934176593, ss3824911688, ss3825857724, ss3984071756, ss5418839574, ss5828121113 NC_000015.9:43069363:C:T NC_000015.10:42777165:C:T (self)
RCV001644620.2, 467213094, 204691473, 7708427773, ss2206279428, ss4989145813 NC_000015.10:42777165:C:T NC_000015.10:42777165:C:T (self)
Help

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

No publications for rs370495535

Help

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

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

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

Software version is: 2.0.1.post761+d5e8e07