Product Details

SNP ID
rs114394600
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:50112961 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCTGCCGCGCAGCCTTCTCCTGGG[C/T]CTTGCGCTCCTTCTCGGCAGCTGCT
Phenotype
MIM: 602525
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PDK2 PubMed Links

Gene Details

Gene
PDK2
Gene Name
pyruvate dehydrogenase kinase 2
There are no transcripts associated with this gene.

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 2503 Missense Mutation NP_001244288.1
NM_174920.3 2503 Missense Mutation NP_777580.1
XM_011524490.2 2503 Missense Mutation XP_011522792.1
XM_017024322.1 2503 Missense Mutation XP_016879811.1
XM_017024323.1 2503 Missense Mutation XP_016879812.1
XM_017024324.1 2503 Missense Mutation XP_016879813.1

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