ACSF3
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | acyl-CoA synthetase family member 3 |
| EntrezGene | 197322 |
| PheGenI | 197322 |
| VariationViewer | 197322 |
| ClinVar | ACSF3 |
| GeneCards | ACSF3 |
| dbSNP | 197322 |
| Diseases | ACSF3 |
| SADR | 197322 |
| HugeNav | 197322 |
| wikipedia | ACSF3 |
| ACSF3 | |
| gopubmed | ACSF3 |
| EVS | ACSF3 |
| HEFalMp | ACSF3 |
| MyGene2 | ACSF3 |
| 23andMe | ACSF3 |
| UniProt | Q4G176 |
| Ensembl | ENSG00000176715 |
| OMIM | 614245 |
| # SNPs | 17 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs1064793662 | 0 | 89,145,346 | |
| rs138680796 | 0 | 89,145,311 | |
| rs140986055 | 0 | 89,102,665 | |
| rs141090143 | 0 | 89,154,148 | |
| rs150487794 | 0 | 89,114,436 | |
| rs201954387 | 0 | 89,146,044 | |
| rs202182978 | 0 | 89,100,709 | |
| rs370382601 | 0 | 89,100,682 | |
| rs387907118 | 0 | 89,146,003 | |
| rs387907119 | 0 | 89,145,312 | |
| rs387907120 | 0 | 89,114,434 | |
| rs387907121 | 0 | 89,101,274 | |
| rs751342087 | 0 | 89,145,276 | |
| rs752104014 | 0 | 89,102,643 | |
| rs757905943 | 0 | 89,101,029 | |
| rs761573352 | 0 | 89,101,270 | |
| rs796051924 | 0 | 89,154,194 |
[PMID 21785126] These results suggest that ACSF3 is a candidate gene for Combined Malonic and Methylmalonic Aciduria, a rare recessive inborn error of metabolism characterised by elevations of urine malonic acid and methylmalonic acid.
