TM7SF2
transmembrane 7 superfamily member 2
Summary
Enables Delta14-sterol reductase activity. Involved in cholesterol biosynthetic process. Located in endoplasmic reticulum. Part of receptor complex. [provided by Alliance of Genome Resources, Apr 2025]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs774697135 | 11:64,879,515 | C/T | — | uncertain significance |
| rs532572337 | 11:64,879,527 | G/C | — | uncertain significance |
| rs367955365 | 11:64,880,019 | A/G | — | uncertain significance |
| rs767122038 | 11:64,880,050 | C/G | — | uncertain significance |
| rs750770040 | 11:64,880,052 | G/C | — | uncertain significance |
| rs1947923931 | 11:64,880,158 | C/T | — | uncertain significance |
| rs1947924279 | 11:64,880,178 | C/G | — | uncertain significance |
| rs563774622 | 11:64,880,179 | G/A | missense variant | — |
| rs1053859882 | 11:64,880,289 | G/A | — | uncertain significance |
| rs1459365131 | 11:64,880,822 | C/A | — | uncertain significance |
| rs555112713 | 11:64,880,835 | A/G | — | uncertain significance |
| rs770443444 | 11:64,880,842 | C/G | — | uncertain significance |
| rs112462138 | 11:64,880,844 | C/A | — | uncertain significance |
| rs1947954232 | 11:64,882,245 | G/A | — | uncertain significance |
| rs776671000 | 11:64,882,249 | T/C | — | uncertain significance |
| rs200355387 | 11:64,882,406 | G/T | — | uncertain significance |
| rs143577587 | 11:64,882,421 | G/A | — | uncertain significance |
| rs902293592 | 11:64,882,424 | T/C | — | uncertain significance |
| rs767202148 | 11:64,882,798 | A/G | — | uncertain significance |
| rs573857198 | 11:64,882,812 | G/T | — | uncertain significance |
| rs201258810 | 11:64,882,837 | G/A | — | uncertain significance |
| rs371080784 | 11:64,882,953 | G/C | — | uncertain significance |
| rs201690600 | 11:64,883,000 | G/C | — | uncertain significance |
| rs35719056 | 11:64,883,021 | C/T | — | benign |
| rs1050479929 | 11:64,883,059 | C/T | — | uncertain significance |
| rs1174760585 | 11:64,883,511 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.