Product Details

SNP ID
rs113448714
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:80106623 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTGGCCCGACCAATGTGGAAGCCT[C/T]CTCGGGTGCTCCGCCCTCCCCGCAG
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 14 UTR 5 NP_000047.1
NM_001318975.1 14 UTR 5 NP_001305904.1
NM_183050.3 14 UTR 5 NP_898871.1
XM_005248756.4 14 Intron XP_005248813.1
XM_011536023.2 14 Intron XP_011534325.1
XM_011536024.2 14 Intron XP_011534326.1
XM_011536025.2 14 Intron XP_011534327.1
XM_011536026.2 14 Intron XP_011534328.1

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