Product Details

SNP ID
rs113964044
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:80106724 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTTGTAGCGGCGGCTGCCGGCTGG[C/T]TACTCAGGCTCAGGGCGGCAGGGGC
Phenotype
MIM: 248611
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
BCKDHB PubMed Links

Gene Details

Gene
BCKDHB
Gene Name
branched chain keto acid dehydrogenase E1 subunit beta
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000056.4 115 Silent Mutation CTA,TTA L11L NP_000047.1
NM_001318975.1 115 Intron NP_001305904.1
NM_183050.3 115 Silent Mutation CTA,TTA L11L NP_898871.1
XM_005248756.4 115 Silent Mutation CTA,TTA L11L XP_005248813.1
XM_011536023.2 115 Silent Mutation CTA,TTA L11L XP_011534325.1
XM_011536024.2 115 Silent Mutation CTA,TTA L11L XP_011534326.1
XM_011536025.2 115 Silent Mutation CTA,TTA L11L XP_011534327.1
XM_011536026.2 115 Intron XP_011534328.1

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