Product Details

SNP ID

rs1978487

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:31118621 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ATGTTCCTGCAACATTTTTTTCCTA[C/T]CTCAGTCATAGTTTTTGTAACATTA

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		Intron			NP_001116429.1
NM_001271926.1		Intron			NP_001258855.1
NM_005881.3		Intron			NP_005872.2
XM_017022859.1		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		Intron			NP_115564.2
NM_182958.2		Intron			NP_892003.2
XM_011545970.1		Intron			XP_011544272.1
XM_011545971.1		Intron			XP_011544273.1

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