Product Details

SNP ID

rs200848088

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:31117796 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCTGAGGGGACCGCCCCATCCCCG[A/G]GCCGCGTCTCTCCGCCGACCCCGGC

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001122957.2	133	Intron			NP_001116429.1
NM_001271926.1	133	Intron			NP_001258855.1
NM_005881.3	133	Intron			NP_005872.2
XM_017022859.1	133	Intron			XP_016878348.1

Gene

KAT8

Gene Name

lysine acetyltransferase 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032188.2	133	Missense Mutation	AGC,GGC	S39G	NP_115564.2
NM_182958.2	133	Missense Mutation	AGC,GGC	S39G	NP_892003.2
XM_011545970.1	133	Intron			XP_011544272.1
XM_011545971.1	133	Intron			XP_011544273.1

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