Product Details

SNP ID
rs201871085
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:31117787 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAATGCGGCCGCTGAGGGGACCGCC[C/G]CATCCCCGGGCCGCGTCTCTCCGCC
Phenotype
MIM: 614901 MIM: 609912
Polymorphism
C/G, Transversion 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_001122957.2 124 Intron NP_001116429.1
NM_001271926.1 124 Intron NP_001258855.1
NM_005881.3 124 Intron NP_005872.2
XM_017022859.1 124 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_032188.2 124 Missense Mutation CCA,GCA P36A NP_115564.2
NM_182958.2 124 Missense Mutation CCA,GCA P36A NP_892003.2
XM_011545970.1 124 Intron XP_011544272.1
XM_011545971.1 124 Intron XP_011544273.1

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