Product Details

SNP ID
rs150453953
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:172558844 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGACACCATCCGTTCAATTGGTACA[A/C]AGCTGGTAAGATTCTCATCTTGTGT
Phenotype
MIM: 602524
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
PDK1 PubMed Links

Gene Details

Gene
PDK1
Gene Name
pyruvate dehydrogenase kinase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278549.1 515 Missense Mutation CAA,CAC Q111H NP_001265478.1
NM_002610.4 515 Missense Mutation CAA,CAC Q111H NP_002601.1
XM_006712594.2 515 Missense Mutation CAA,CAC Q111H XP_006712657.1
XM_006712595.3 515 UTR 5 XP_006712658.1
XM_011511343.2 515 Missense Mutation CAA,CAC Q35H XP_011509645.1
XM_011511344.2 515 Missense Mutation CAA,CAC Q35H XP_011509646.1
XM_011511345.2 515 Missense Mutation CAA,CAC Q35H XP_011509647.1
XM_011511347.2 515 Missense Mutation CAA,CAC Q35H XP_011509649.1

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