Product Details

SNP ID
rs199732145
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.16:66884699 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAAACCAATGGACTGATGTTTGGC[A/C]TCTTCGATGGACATGGTGGTCATGC
Phenotype
MIM: 615499
Polymorphism
A/C, Transversion Substitution
Allele Nomenclature
Literature Links
PDP2 PubMed Links

Gene Details

Gene
PDP2
Gene Name
pyruvate dehyrogenase phosphatase catalytic subunit 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
XM_005256064.4 744 Missense Mutation ATC,CTC I139L XP_005256121.1
XM_005256066.4 744 Missense Mutation ATC,CTC I139L XP_005256123.1
XM_005256067.4 744 Missense Mutation ATC,CTC I139L XP_005256124.1
XM_005256068.4 744 Missense Mutation ATC,CTC I139L XP_005256125.1
XM_017023506.1 744 Missense Mutation ATC,CTC I139L XP_016878995.1

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