CS
citrate synthase
Summary
The protein encoded by this gene is a Krebs tricarboxylic acid cycle enzyme that catalyzes the synthesis of citrate from oxaloacetate and acetyl coenzyme A. The enzyme is found in nearly all cells capable of oxidative metablism. This protein is nuclear encoded and transported into the mitochondrial matrix, where the mature form is found. [provided by RefSeq, Jul 2008]
Known Variants22 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs139054969 | 12:56,666,881 | G/A | — | conflicting classifications of pathogenicity |
| rs2547163480 | 12:56,666,950 | C/T | — | uncertain significance |
| rs774054252 | 12:56,667,019 | A/C | — | uncertain significance |
| rs2547163881 | 12:56,667,480 | A/G | — | uncertain significance |
| rs575942993 | 12:56,668,562 | C/T | — | uncertain significance |
| rs2547164695 | 12:56,668,610 | G/A | — | uncertain significance |
| rs61738833 | 12:56,669,799 | A/G | — | benign |
| rs1251681660 | 12:56,669,915 | C/T | — | uncertain significance |
| rs201525280 | 12:56,676,214 | T/G | — | uncertain significance |
| rs757811179 | 12:56,676,220 | C/T | — | uncertain significance |
| rs773009426 | 12:56,676,265 | T/C | — | uncertain significance |
| rs141833651 | 12:56,676,755 | A/G | — | benign |
| rs779289848 | 12:56,676,769 | G/A | — | uncertain significance |
| rs2547168600 | 12:56,677,628 | A/G | — | uncertain significance |
| rs561428964 | 12:56,677,639 | C/T | — | uncertain significance |
| rs749108006 | 12:56,679,717 | G/C | — | uncertain significance |
| rs1004878872 | 12:56,679,727 | C/T | — | likely benign |
| rs3816804 | 12:56,680,745 | C/T | regulatory region variant | — |
| rs11171792 | 12:56,683,957 | G/A | intron variant | — |
| rs2643623 | 12:56,689,725 | G/A | — | — |
| rs1170976989 | 12:56,693,964 | C/A | — | uncertain significance |
| rs147086028 | 12:56,693,981 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.