ACAT2
acetyl-CoA acetyltransferase 2
Summary
The product of this gene is an enzyme involved in lipid metabolism, and it encodes cytosolic acetoacetyl-CoA thiolase. This gene shows complementary overlapping with the 3-prime region of the TCP1 gene in both mouse and human. These genes are encoded on opposite strands of DNA, as well as in opposite transcriptional orientation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1583121266 | 6:160,183,762 | G/A | — | likely benign |
| rs199953042 | 6:160,183,960 | A/C | — | uncertain significance |
| rs2483015992 | 6:160,188,039 | T/G | — | uncertain significance |
| rs751109778 | 6:160,189,589 | T/A | — | uncertain significance |
| rs1583127027 | 6:160,189,623 | T/G | — | likely benign |
| rs749539993 | 6:160,189,641 | C/T | — | likely benign |
| rs2483018117 | 6:160,189,642 | T/C | — | uncertain significance |
| rs761031025 | 6:160,189,672 | A/G | — | likely benign |
| rs564376466 | 6:160,190,547 | G/T | — | — |
| rs371307389 | 6:160,196,237 | G/A | — | uncertain significance |
| rs755862093 | 6:160,196,284 | T/G | — | uncertain significance |
| rs41292466 | 6:160,196,296 | T/G | — | benign |
| rs201127508 | 6:160,197,189 | T/C | — | likely benign |
| rs1371556945 | 6:160,197,219 | T/A | — | uncertain significance |
| rs1468611034 | 6:160,197,266 | C/G | — | uncertain significance |
| rs759175309 | 6:160,198,360 | G/A | — | uncertain significance |
| rs766634937 | 6:160,198,366 | A/C | — | uncertain significance |
| rs763819510 | 6:160,198,374 | G/C | — | uncertain significance |
| rs146437481 | 6:160,198,427 | C/G | — | benign |
| rs769205319 | 6:160,198,433 | T/C | — | likely benign |
| rs1250435300 | 6:160,198,435 | G/A | — | uncertain significance |
| rs1426737838 | 6:160,198,443 | G/T | — | uncertain significance |
| rs768675557 | 6:160,198,444 | C/T | — | uncertain significance |
| rs753538575 | 6:160,199,251 | A/G | — | uncertain significance |
| rs202015012 | 6:160,199,257 | C/G | — | uncertain significance |
| rs915513941 | 6:160,199,278 | C/T | — | uncertain significance |
| rs200892543 | 6:160,199,686 | G/A | — | likely benign |
| rs373153343 | 6:160,199,709 | G/T | — | uncertain significance |
| rs1056445245 | 6:160,199,737 | C/G | — | uncertain significance |
| rs1240374740 | 6:160,199,772 | A/G | — | likely benign |
| rs755181203 | 6:160,199,785 | T/C | — | likely benign |
| rs2483034693 | 6:160,199,793 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.