Product Details

SNP ID
rs146343191
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.16:31118266 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCCCTGGCAGCCATCCGCAGAGAG[A/C]AGACCTTCCAGAAACAACAGGCTTC
Phenotype
MIM: 614901 MIM: 609912
Polymorphism
A/C, 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_001122957.2 307 Intron NP_001116429.1
NM_001271926.1 307 Intron NP_001258855.1
NM_005881.3 307 Intron NP_005872.2
XM_017022859.1 307 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_032188.2 307 Intron NP_115564.2
NM_182958.2 307 Intron NP_892003.2
XM_011545970.1 307 UTR 5 XP_011544272.1
XM_011545971.1 307 UTR 5 XP_011544273.1

View Full Product Details