Product Details

SNP ID
rs79568656
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.19:41398400 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACAGGCTGCATAGGGCCTTGTATT[C/T]CTTTGCTCCTTTGCCACAATTCTGA
Phenotype
MIM: 608348 MIM: 606492
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
BCKDHA PubMed Links

Gene Details

Gene
BCKDHA
Gene Name
branched chain keto acid dehydrogenase E1, alpha polypeptide
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000709.3 Intron NP_000700.1
NM_001164783.1 Intron NP_001158255.1
Gene
EXOSC5
Gene Name
exosome component 5
There are no transcripts associated with this gene.

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