Product Details

SNP ID

rs145795547

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:58428510 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCACAGATTTCAGCTCCTACTCC[A/G]AACTGTGGCCAGCCTCCTTCCACAG

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	886	Silent Mutation	TTC,TTT	F299F	NP_000916.2
NM_001173468.1	886	Silent Mutation	TTC,TTT	F281F	NP_001166939.1
NM_001315536.1	886	Silent Mutation	TTC,TTT	F281F	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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