Product Details

SNP ID
rs147210405
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:31110716 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACTTTGTCGGCATCATCTGTACTC[A/G]TCTCTCACCAAAGAAGATTATTGAG
Phenotype
MIM: 614901 MIM: 609912
Polymorphism
A/G, 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 1034 Missense Mutation CAT,CGT H224R NP_001116429.1
NM_001271926.1 1034 Missense Mutation CAT,CGT H224R NP_001258855.1
NM_005881.3 1034 Missense Mutation CAT,CGT H224R NP_005872.2
XM_017022859.1 1034 Missense Mutation CAT,CGT H224R XP_016878348.1
Gene
KAT8
Gene Name
lysine acetyltransferase 8
There are no transcripts associated with this gene.

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