Product Details

SNP ID
rs201402458
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:31110288 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCACAAGGATGTGGTGACCCTCTT[C/G]GCAGAGGGCCTACGTGAGAGCCGGA
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_001122957.2 870 Silent Mutation TTC,TTG F169L NP_001116429.1
NM_001271926.1 870 Silent Mutation TTC,TTG F169L NP_001258855.1
NM_005881.3 870 Silent Mutation TTC,TTG F169L NP_005872.2
XM_017022859.1 870 Silent Mutation TTC,TTG F169L XP_016878348.1
Gene
KAT8
Gene Name
lysine acetyltransferase 8
There are no transcripts associated with this gene.

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