Product Details

SNP ID

rs35661499

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:172562281 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGACAAAAGTGCTGAGGATGCTAAA[A/G]CTATTTATGAGTAAGTTCACTATTT

Phenotype

MIM: 602524

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PDK1 PubMed Links

Gene Details

Gene

PDK1

Gene Name

pyruvate dehydrogenase kinase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278549.1	582	Missense Mutation	ACT,GCT	T134A	NP_001265478.1
NM_002610.4	582	Missense Mutation	ACT,GCT	T134A	NP_002601.1
XM_006712594.2	582	Missense Mutation	ACT,GCT	T134A	XP_006712657.1
XM_006712595.3	582	Silent Mutation	AAA,AAG	K3K	XP_006712658.1
XM_011511343.2	582	Missense Mutation	ACT,GCT	T58A	XP_011509645.1
XM_011511344.2	582	Missense Mutation	ACT,GCT	T58A	XP_011509646.1
XM_011511345.2	582	Missense Mutation	ACT,GCT	T58A	XP_011509647.1
XM_011511347.2	582	Missense Mutation	ACT,GCT	T58A	XP_011509649.1

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