The BCKDHB gene homepage

General information
Gene symbol BCKDHB
Gene name branched chain keto acid dehydrogenase E1 subunit beta
Chromosome 6
Chromosomal band q14.1
Imprinted Unknown
Genomic reference NG_009775.2
Transcript reference NM_183050.3
Associated with diseases MSUD
Citation reference(s) -
Curators (1) MyHVP
Total number of public variants reported 16
Unique public DNA variants reported 12
Individuals with public variants 5
Hidden variants 0
Download all this gene's data Download all data
Date created December 06, 2020
Date last updated December 14, 2020
Version BCKDHB:201214

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 987
Entrez Gene 594
PubMed articles BCKDHB
OMIM - Gene 248611
HGMD BCKDHB
GeneCards BCKDHB
GeneTests BCKDHB


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000053 6 transcript variant 1 NM_183050.3 NP_898871.1 16


Copyright & disclaimer
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