ACSS1
acyl-CoA synthetase short chain family member 1
Summary
This gene encodes a mitochondrial acetyl-CoA synthetase enzyme. A similar protein in mice plays an important role in the tricarboxylic acid cycle by catalyzing the conversion of acetate to acetyl CoA. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Known Variants42 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs143890712 | 20:24,988,454 | C/T | — | likely benign |
| rs201279440 | 20:24,988,462 | C/G | — | uncertain significance |
| rs771864039 | 20:24,988,466 | G/A | — | uncertain significance |
| rs770327493 | 20:24,988,483 | G/A | — | uncertain significance |
| rs775295429 | 20:24,988,507 | C/A | — | uncertain significance |
| rs575005733 | 20:24,989,958 | T/C | — | likely benign |
| rs540694076 | 20:24,989,991 | G/A | — | uncertain significance |
| rs1037886334 | 20:24,990,006 | A/C | — | uncertain significance |
| rs565829843 | 20:24,993,238 | T/A | — | uncertain significance |
| rs370949798 | 20:24,993,480 | G/A | — | uncertain significance |
| rs2088438559 | 20:24,993,560 | C/T | — | uncertain significance |
| rs1325761051 | 20:24,994,195 | T/C | — | uncertain significance |
| rs747031189 | 20:24,994,204 | C/A | — | uncertain significance |
| rs367670992 | 20:24,994,274 | C/T | — | uncertain significance |
| rs112683865 | 20:24,994,614 | C/T | — | benign |
| rs775016558 | 20:24,994,689 | C/T | — | uncertain significance |
| rs138141036 | 20:25,000,679 | A/G | — | uncertain significance |
| rs145679432 | 20:25,000,683 | C/T | — | benign |
| rs1251137058 | 20:25,000,717 | C/T | — | uncertain significance |
| rs2514933916 | 20:25,002,087 | C/G | — | uncertain significance |
| rs371878838 | 20:25,003,590 | C/T | — | uncertain significance |
| rs41315096 | 20:25,003,597 | G/C | synonymous variant | — |
| rs144714391 | 20:25,003,701 | C/T | — | uncertain significance |
| rs375469469 | 20:25,004,112 | G/A | — | uncertain significance |
| rs140483868 | 20:25,004,176 | C/T | — | uncertain significance |
| rs553185749 | 20:25,004,248 | G/C | — | uncertain significance |
| rs77671253 | 20:25,005,088 | G/T | intron variant | — |
| rs76659077 | 20:25,005,602 | T/C | intron variant | — |
| rs62217175 | 20:25,005,948 | T/C | intron variant | — |
| rs188228873 | 20:25,008,915 | A/G | intron variant | — |
| rs571620190 | 20:25,010,172 | A/T | — | — |
| rs965374293 | 20:25,011,446 | C/T | — | uncertain significance |
| rs200650895 | 20:25,011,506 | C/T | — | uncertain significance |
| rs2514961464 | 20:25,011,592 | T/C | — | uncertain significance |
| rs758553860 | 20:25,013,019 | G/A | — | likely benign |
| rs181990640 | 20:25,015,390 | G/C | intron variant | — |
| rs6050267 | 20:25,019,099 | G/A | intron variant | — |
| rs148434206 | 20:25,028,758 | G/A | — | uncertain significance |
| rs113598729 | 20:25,028,776 | C/T | — | likely benign |
| rs2515025471 | 20:25,038,607 | G/T | — | uncertain significance |
| rs1046017750 | 20:25,038,643 | G/T | — | uncertain significance |
| rs987610641 | 20:25,038,651 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.