Product Details

SNP ID
rs2239953
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:50111660 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GGAGGAGCTGGAGGGGTTTCCAAGC[A/G]GGAGCCCCCAGGCCTCATCGGTAAC
Phenotype
MIM: 602525
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PDK2 PubMed Links

Gene Details

Gene
PDK2
Gene Name
pyruvate dehydrogenase kinase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001199898.1 3804 Intron NP_001186827.1
NM_001199899.1 3804 Intron NP_001186828.1
NM_001199900.1 3804 Intron NP_001186829.1
NM_002611.4 3804 Intron NP_002602.2
Gene
SAMD14
Gene Name
sterile alpha motif domain containing 14
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001257359.1 3804 UTR 3 NP_001244288.1
NM_174920.3 3804 UTR 3 NP_777580.1
XM_011524490.2 3804 UTR 3 XP_011522792.1
XM_017024322.1 3804 UTR 3 XP_016879811.1
XM_017024323.1 3804 UTR 3 XP_016879812.1
XM_017024324.1 3804 UTR 3 XP_016879813.1

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