Product Details

SNP ID

rs139003521

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:31120218 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAAGTGATCCAGTCTCGAGTGAAC[A/G]ACCAGGAGGGCCGAGAGGAATTCTA

Phenotype

MIM: 614901 MIM: 609912

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

BCKDK PubMed Links

Gene Details

Gene

BCKDK

Gene Name

branched chain ketoacid dehydrogenase kinase

There are no transcripts associated with this gene.

Gene

KAT8

Gene Name

lysine acetyltransferase 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032188.2	808	Missense Mutation	AAC,GAC	N82D	NP_115564.2
NM_182958.2	808	Missense Mutation	AAC,GAC	N82D	NP_892003.2
XM_011545970.1	808	UTR 5			XP_011544272.1
XM_011545971.1	808	UTR 5			XP_011544273.1

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