Product Details

SNP ID

rs145876456

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:58428491 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAATACCTTCCATGATCCTGGCAC[A/G]GATTTCAGCTCCTACTCCAAACTGT

Phenotype

MIM: 179060 MIM: 611450

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PDHB PubMed Links

Gene Details

Gene

PDHB

Gene Name

pyruvate dehydrogenase (lipoamide) beta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000925.3	905	Missense Mutation	CGT,TGT	R306C	NP_000916.2
NM_001173468.1	905	Missense Mutation	CGT,TGT	R288C	NP_001166939.1
NM_001315536.1	905	Missense Mutation	CGT,TGT	R288C	NP_001302465.1

Gene

PXK

Gene Name

PX domain containing serine/threonine kinase like

There are no transcripts associated with this gene.

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