Product Details

SNP ID
rs201563652
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:50114057 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCTGGCTGGTCCAGTGGTGGACA[C/G]GGGGGAGGGGTTCATCCAGGAACTG
Phenotype
MIM: 602525
Polymorphism
C/G, Transversion 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 2282 Missense Mutation CCT,CGT P322R NP_001244288.1
NM_174920.3 2282 Missense Mutation CCT,CGT P350R NP_777580.1
XM_011524490.2 2282 Missense Mutation CCT,CGT P105R XP_011522792.1
XM_017024322.1 2282 Missense Mutation CCT,CGT P405R XP_016879811.1
XM_017024323.1 2282 Missense Mutation CCT,CGT P322R XP_016879812.1
XM_017024324.1 2282 Missense Mutation CCT,CGT P350R XP_016879813.1

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