CDK5 Regulatory Subunit-Associated Protein 1-Like 1

Alternative Names

  • CDKAL1
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OMIM Number

611259

NCBI Gene ID

54901

Uniprot ID

Q5VV42

Length

697,948 bases

No. of Exons

22

No. of isoforms

3

Protein Name

Threonylcarbamoyladenosine tRNA methylthiotransferase

Molecular Mass

65111 Da

Amino Acid Count

579

Genomic Location

chr6:20,534,457-21,232,404

Gene Map Locus
6p22.3

Description

The protein encoded by CDKAL1 gene is a member of the methylthiotransferase family. The function of this gene is not known. Genome-wide association studies have linked single nucleotide polymorphisms in an intron of this gene with susceptibilty to type 2 diabetes. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_017774.3:c.371+10198T>CLebanonNC_000006.12:g.20659575T>CDiabetes Mellitus, Noninsulin-DependentNG_021195.1:g.130119T>C; NM_017774.3:c.371+10198T>C6456368
NM_017774.3:c.371+10757T>CLebanonNC_000006.12:g.20660134T>CDiabetes Mellitus, Noninsulin-DependentNG_021195.1:g.130678T>C; NM_017774.3:c.371+10757T>C6456369
NM_017774.3:c.371+11082G>ALebanonNC_000006.12:g.20660459G>ADiabetes Mellitus, Noninsulin-DependentNG_021195.1:g.131003G>A; NM_017774.3:c.371+11082G>A10946396
NM_017774.3:c.371+11312C>ALebanonNC_000006.12:g.20660689C>ADiabetes Mellitus, Noninsulin-DependentNG_021195.1:g.131233C>A; NM_017774.3:c.371+11312C>A1237176501
NM_017774.3:c.371+11642G>CLebanonNC_000006.12:g.20661019G>CRisk factorDiabetes Mellitus, Noninsulin-DependentNG_021195.1:g.131563G>C; NM_017774.3:c.371+11642G>C7754840812171
NM_017774.3:c.371+12609T>CLebanonNC_000006.12:g.20661986T>CDiabetes Mellitus, Noninsulin-DependentNG_021195.1:g.132530T>C; NM_017774.3:c.371+12609T>C35456723
NM_017774.3:c.371+16414G>ALebanonNC_000006.12:g.20665791G>ADiabetes Mellitus, Noninsulin-DependentNG_021195.1:g.136335G>A; NM_017774.3:c.371+16414G>A7752780
NM_017774.3:c.371+24272T>CLebanonNC_000006.12:g.20673649T>CDiabetes Mellitus, Noninsulin-DependentNG_021195.1:g.144193T>C; NM_017774.3:c.371+24272T>C7451008
NM_017774.3:c.371+26184C>ALebanonNC_000006.12:g.20675561C>ADiabetes Mellitus, Noninsulin-DependentNG_021195.1:g.146105C>A; NM_017774.3:c.371+26184C>A35261542
NM_017774.3:c.371+29702T>GLebanonNC_000006.12:g.20679079T>GDiabetes Mellitus, Noninsulin-DependentNG_021195.1:g.149623T>G; NM_017774.3:c.371+29702T>G1569699
NM_017774.3:c.371+30101A>GLebanonchr6:20679478Diabetes Mellitus, Noninsulin-DependentNG_021195.2:g.150022A>G; NM_017774.3:c.371+30101A>G7756992987
NM_017774.3:c.371+31070T>ALebanonNC_000006.12:g.20680447T>ADiabetes Mellitus, Noninsulin-DependentNG_021195.1:g.150991T>A; NM_017774.3:c.371+31070T>A9348441
NM_017774.3:c.371+3109C>GLebanonNC_000006.12:g.20652486C>GDiabetes Mellitus, Noninsulin-DependentNG_021195.1:g.123030C>G; NM_017774.3:c.371+3109C>G9295474
NM_017774.3:c.371+33556G>ALebanonNC_000006.12:g.20682933G>ADiabetes Mellitus, Noninsulin-DependentNG_021195.1:g.153477G>A; NM_017774.3:c.371+33556G>A9350271
NM_017774.3:c.371+36965C>ALebanonNC_000006.12:g.20686342C>ADiabetes Mellitus, Noninsulin-DependentNG_021195.1:g.156886C>A; NM_017774.3:c.371+36965C>A7766070
NM_017774.3:c.371+37388C>ALebanonNC_000006.12:g.20686765C>ADiabetes Mellitus, Noninsulin-DependentNG_021195.1:g.157309C>A; NM_017774.3:c.371+37388C>A9368222
NM_017774.3:c.371+8404A>CLebanonNC_000006.12:g.20657781A>CDiabetes Mellitus, Noninsulin-DependentNG_021195.1:g.128325A>C; NM_017774.3:c.371+8404A>C4710940
NM_017774.3:c.371+9979T>ALebanonNC_000006.12:g.20659356T>ADiabetes Mellitus, Noninsulin-DependentNG_021195.1:g.129900T>A; NM_017774.3:c.371+9979T>A6456367
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