Product Details

SNP ID
rs149122016
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:50113958 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTTCCGTCCAGCTGCAGCAGCTGC[A/G]GCCCGTCTACCTGCCGTGCAGCAAA
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
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 2381 Missense Mutation CCG,CTG P355L NP_001244288.1
NM_174920.3 2381 Missense Mutation CCG,CTG P383L NP_777580.1
XM_011524490.2 2381 Missense Mutation CCG,CTG P138L XP_011522792.1
XM_017024322.1 2381 Missense Mutation CCG,CTG P438L XP_016879811.1
XM_017024323.1 2381 Missense Mutation CCG,CTG P355L XP_016879812.1
XM_017024324.1 2381 Missense Mutation CCG,CTG P383L XP_016879813.1

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