Product Details

SNP ID

rs139306010

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:66884415 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAATTAAAATGGAGGCTCTTTTCCC[A/G]GGTGCCACCCACCCTAAACAGTTCC

Phenotype

MIM: 615499

Polymorphism

A/G, Transition 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	460	Missense Mutation	CAG,CGG	Q44R	XP_005256121.1
XM_005256066.4	460	Missense Mutation	CAG,CGG	Q44R	XP_005256123.1
XM_005256067.4	460	Missense Mutation	CAG,CGG	Q44R	XP_005256124.1
XM_005256068.4	460	Missense Mutation	CAG,CGG	Q44R	XP_005256125.1
XM_017023506.1	460	Missense Mutation	CAG,CGG	Q44R	XP_016878995.1

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