Product Details

SNP ID
rs201626926
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:172558847 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACCATCCGTTCAATTGGTACAAAG[A/C]TGGTAAGATTCTCATCTTGTGTTTG
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_001278549.1 518 Silent Mutation AGA,AGC R112S NP_001265478.1
NM_002610.4 518 Silent Mutation AGA,AGC R112S NP_002601.1
XM_006712594.2 518 Silent Mutation AGA,AGC R112S XP_006712657.1
XM_006712595.3 518 UTR 5 XP_006712658.1
XM_011511343.2 518 Missense Mutation AGA,AGC R36S XP_011509645.1
XM_011511344.2 518 Missense Mutation AGA,AGC R36S XP_011509646.1
XM_011511345.2 518 Missense Mutation AGA,AGC R36S XP_011509647.1
XM_011511347.2 518 Missense Mutation AGA,AGC R36S XP_011509649.1

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