Product Details

SNP ID

rs4228

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:58427942 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGTTGCTTTAGAAATCGTTTTCC[G/T]TTATGAATAGTCAGGTCTTGCAGTA

Phenotype

MIM: 179060 MIM: 611450

Polymorphism

G/T, Transversion 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	1161	UTR 3			NP_000916.2
NM_001173468.1	1161	UTR 3			NP_001166939.1
NM_001315536.1	1161	UTR 3			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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