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_001127214.2, NM_001243279.1, NM_174917.3, NR_045667.2, XM_005256293.1
Associated with diseases CMAMMA, ID
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 530
Unique public DNA variants reported 46
Individuals with public variants 35
Hidden variants 105
Date created November 30, -0001
Date last updated September 28, 2016
Version ACSF3:160928

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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:27288
Entrez Gene 197322
PubMed articles ACSF3
OMIM - Gene 614245
OMIM - Diseases CMAMMA (aciduria, combined malonic and methylmalonic (CMAMMA))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00015494 16 Manually created transcript. (expired, new version available) NM_001127214.2 - 530
00015495 16 Manually created transcript. (expired, new version available) NM_001243279.1 - 530
00015496 16 Manually created transcript. (expired, new version available) NM_174917.3 - 530
00038032 16 transcript variant X1 XM_005256293.1 XP_005256350.1 -
00038034 16 transcript variant 6 NR_045667.2 - -