Product Details

SNP ID

rs144747578

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:31109680 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTCTCATTTTCTCCCAGAAAAGTG[C/T]TCGGTACCTGCAGCAAGAACTTCCA

Phenotype

MIM: 614901 MIM: 609912

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

BCKDK PubMed Links

Gene Details

Gene

BCKDK

Gene Name

branched chain ketoacid dehydrogenase kinase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001122957.2	635	Missense Mutation	GCT,GTT	A91V	NP_001116429.1
NM_001271926.1	635	Missense Mutation	GCT,GTT	A91V	NP_001258855.1
NM_005881.3	635	Missense Mutation	GCT,GTT	A91V	NP_005872.2
XM_017022859.1	635	Missense Mutation	GCT,GTT	A91V	XP_016878348.1

Gene

KAT8

Gene Name

lysine acetyltransferase 8

There are no transcripts associated with this gene.

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