The ACSF3 gene homepage

General information
Gene symbol ACSF3
Gene name acyl-CoA synthetase family member 3
Chromosome 16
Chromosomal band q24.3
Imprinted Unknown
Genomic reference NG_031961.1
Transcript reference NM_174917.3
Exon/intron information NM_174917.3 exon/intron table
Associated with diseases CMAMMA, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 59
Unique public DNA variants reported 39
Individuals with public variants 5
Hidden variants 12
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated November 27, 2023
Version ACSF3:231127

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_174917.3.
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
Homepage URL https://www.LOVD.nl/ACSF3
HGNC 27288
Entrez Gene 197322
PubMed articles ACSF3
OMIM - Gene 614245
OMIM - Diseases CMAMMA (aciduria, combined malonic and methylmalonic (CMAMMA))
HGMD ACSF3
GeneCards ACSF3
GeneTests ACSF3
Orphanet ACSF3


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001998 16 transcript variant 1 NM_174917.3 NP_777577.2 59


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