Product Details

SNP ID
rs199974683
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:31109511 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTCAAGGCCTCTCTCCCTCTCTAG[C/T]CCTCAGTCCGCCTAACGCCCACCAT
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_001122957.2 559 Missense Mutation CCC,TCC P66S NP_001116429.1
NM_001271926.1 559 Missense Mutation CCC,TCC P66S NP_001258855.1
NM_005881.3 559 Missense Mutation CCC,TCC P66S NP_005872.2
XM_017022859.1 559 Missense Mutation CCC,TCC P66S XP_016878348.1
Gene
KAT8
Gene Name
lysine acetyltransferase 8
There are no transcripts associated with this gene.

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