Product Details

SNP ID
rs200382141
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:31110320 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCCTACGTGAGAGCCGGAAGCACA[C/T]AGAGGTTGGGGCAGCAAAGGAGAGG
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_001122957.2 902 Missense Mutation ACA,ATA T180I NP_001116429.1
NM_001271926.1 902 Missense Mutation ACA,ATA T180I NP_001258855.1
NM_005881.3 902 Missense Mutation ACA,ATA T180I NP_005872.2
XM_017022859.1 902 Missense Mutation ACA,ATA T180I XP_016878348.1
Gene
KAT8
Gene Name
lysine acetyltransferase 8
There are no transcripts associated with this gene.

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