ACADSB gene homepage

General information
Gene symbol ACADSB
Gene name acyl-CoA dehydrogenase, short/branched chain
Chromosome 10
Chromosomal band q25-q26
Imprinted Unknown
Genomic reference NG_008003.1
Transcript reference NM_001609.3
Exon/intron information NM_001609.3 exon/intron table
Associated with diseases SBCADD
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Stefanie Wieser and Division of Human Genetics, Innsbruck
Total number of public variants reported 48
Unique public DNA variants reported 16
Individuals with public variants 27
Hidden variants 0
Notes The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.
Date created April 05, 2011
Date last updated October 12, 2018
Version ACADSB:181012

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001609.3.
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
External URL Orphanet
Infromed Constent before genetic testing
HGNC 91
Entrez Gene 36
PubMed articles ACADSB
OMIM - Gene 600301
OMIM - Diseases SBCADD (2-methylbutyryl-CoA dehydrogenase deficiency (SBCADD))
HGMD ACADSB
GeneCards ACADSB
GeneTests ACADSB


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000164 10 acyl-CoA dehydrogenase, short/branched chain NM_001609.3 NP_001600.1 48


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