STRA6
signaling receptor and transporter of retinol STRA6
Summary
The protein encoded by this gene is a membrane protein involved in the metabolism of retinol. The encoded protein acts as a receptor for retinol/retinol binding protein complexes. This protein removes the retinol from the complex and transports it across the cell membrane. Defects in this gene are a cause of syndromic microphthalmia type 9 (MCOPS9). Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Known Variants248 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs62005710 | 15:74,471,793 | C/T | — | likely benign |
| rs2072874635 | 15:74,471,839 | A/G | — | uncertain significance |
| rs78299262 | 15:74,471,852 | A/G | — | benign |
| rs75117524 | 15:74,471,932 | A/G | — | benign |
| rs533909647 | 15:74,471,995 | C/T | — | uncertain significance |
| rs555469778 | 15:74,472,022 | C/T | — | uncertain significance |
| rs544748271 | 15:74,472,040 | G/A | — | uncertain significance |
| rs1052233880 | 15:74,472,053 | C/G | — | uncertain significance |
| rs757666088 | 15:74,472,097 | G/A | — | uncertain significance |
| rs10910 | 15:74,472,199 | T/C | — | benign |
| rs886051471 | 15:74,472,212 | C/G | — | uncertain significance |
| rs191496909 | 15:74,472,231 | G/A | — | uncertain significance |
| rs529087735 | 15:74,472,232 | C/A | — | uncertain significance |
| rs746189629 | 15:74,472,243 | G/A | — | uncertain significance |
| rs2072890902 | 15:74,472,280 | C/T | — | uncertain significance |
| rs11631944 | 15:74,472,294 | A/G | — | benign |
| rs567317604 | 15:74,472,316 | C/T | — | uncertain significance |
| rs886051472 | 15:74,472,332 | A/G | — | uncertain significance |
| rs182529524 | 15:74,472,346 | G/T | — | likely benign |
| rs1029459207 | 15:74,472,349 | G/A | — | uncertain significance |
| rs886051473 | 15:74,472,389 | C/A | — | uncertain significance |
| rs545309882 | 15:74,472,411 | T/G | — | uncertain significance |
| rs147077716 | 15:74,472,424 | G/A | — | likely benign |
| rs775309731 | 15:74,472,433 | A/G | — | uncertain significance |
| rs144043304 | 15:74,472,455 | G/A | — | uncertain significance |
| rs397514639 | 15:74,472,461 | C/T | missense variant | pathogenic |
| rs118203959 | 15:74,472,462 | G/A | missense variant | pathogenic |
| rs150687411 | 15:74,472,468 | C/T | — | uncertain significance |
| rs2072902264 | 15:74,472,483 | T/G | — | uncertain significance |
| rs1555453444 | 15:74,472,490 | C/T | — | uncertain significance |
| rs118203960 | 15:74,472,494 | G/A | missense variant | pathogenic |
| rs2505740381 | 15:74,472,503 | A/T | — | uncertain significance |
| rs1567175757 | 15:74,472,508 | C/T | — | uncertain significance |
| rs144691445 | 15:74,472,512 | C/G | missense variant | pathogenic |
| rs775200791 | 15:74,472,513 | G/A | — | uncertain significance |
| rs145614612 | 15:74,472,522 | T/C | — | likely benign |
| rs200178616 | 15:74,472,525 | G/A | — | uncertain significance |
| rs144308388 | 15:74,472,534 | C/T | — | likely benign |
| rs2505740906 | 15:74,472,545 | C/T | — | uncertain significance |
| rs747368136 | 15:74,472,554 | A/G | — | uncertain significance |
| rs781757356 | 15:74,472,558 | A/C | — | uncertain significance |
| rs371958106 | 15:74,472,577 | C/G | — | uncertain significance |
| rs773047496 | 15:74,472,596 | G/A | — | likely benign |
| rs351242 | 15:74,472,716 | G/A | — | benign |
| rs4886578 | 15:74,473,035 | T/C | — | benign |
| rs12912578 | 15:74,473,073 | A/G | — | benign |
| rs118056606 | 15:74,473,111 | G/A | — | likely benign |
| rs778430773 | 15:74,473,119 | G/A | — | uncertain significance |
| rs201008326 | 15:74,473,124 | T/A | — | uncertain significance |
| rs142048815 | 15:74,473,127 | G/A | — | benign |
| rs765242612 | 15:74,473,146 | A/C | — | uncertain significance |
| rs374676386 | 15:74,473,153 | C/G | — | uncertain significance |
| rs2277607 | 15:74,473,160 | G/A | — | likely benign |
| rs115331762 | 15:74,473,192 | C/T | — | likely benign |
| rs372931895 | 15:74,473,228 | G/C | missense variant | pathogenic |
| rs560382393 | 15:74,473,249 | T/A | — | uncertain significance |
| rs750864641 | 15:74,473,264 | G/A | — | likely pathogenic |
| rs200483434 | 15:74,473,269 | G/A | — | uncertain significance |
| rs548988185 | 15:74,473,270 | T/C | — | uncertain significance |
| rs757931484 | 15:74,473,271 | G/A | — | likely benign |
| rs201730717 | 15:74,473,283 | G/C | — | conflicting classifications of pathogenicity |
| rs151148422 | 15:74,473,293 | C/T | — | benign |
| rs12913041 | 15:74,473,302 | A/G | — | benign |
| rs140269059 | 15:74,473,371 | T/G | — | likely benign |
| rs112051934 | 15:74,473,391 | A/T | — | likely benign |
| rs397514638 | 15:74,473,642 | C/G | missense variant | pathogenic |
| rs201582612 | 15:74,473,643 | G/A | — | likely benign |
| rs748286024 | 15:74,473,650 | G/A | — | uncertain significance |
| rs368883595 | 15:74,473,651 | C/T | — | uncertain significance |
| rs372149672 | 15:74,473,652 | G/A | — | likely benign |
| rs759887263 | 15:74,473,659 | G/A | — | uncertain significance |
| rs2505752617 | 15:74,473,689 | A/G | — | uncertain significance |
| rs141004067 | 15:74,473,715 | G/A | — | uncertain significance |
| rs2072978576 | 15:74,473,725 | C/A | — | uncertain significance |
| rs570214336 | 15:74,473,726 | G/A | — | pathogenic |
| rs736118 | 15:74,473,739 | T/C | — | benign |
| rs886051474 | 15:74,473,754 | C/A | — | conflicting classifications of pathogenicity |
| rs559042530 | 15:74,473,755 | A/C | — | uncertain significance |
| rs397518484 | 15:74,473,800 | C/T | — | pathogenic |
| rs11855667 | 15:74,474,010 | A/C | — | benign |
| rs75966499 | 15:74,474,083 | T/C | — | benign |
| rs76286141 | 15:74,474,302 | C/T | — | likely benign |
| rs200609080 | 15:74,474,488 | A/G | — | uncertain significance |
| rs751477964 | 15:74,474,502 | C/T | — | uncertain significance |
| rs376678879 | 15:74,474,503 | G/A | — | uncertain significance |
| rs1567178204 | 15:74,474,504 | G/T | — | uncertain significance |
| rs143350697 | 15:74,474,582 | G/A | — | likely benign |
| rs1249326220 | 15:74,474,612 | G/T | — | likely benign |
| rs199508878 | 15:74,474,614 | G/A | — | likely benign |
| rs2073034363 | 15:74,474,666 | A/C | — | likely benign |
| rs351241 | 15:74,474,686 | C/T | — | likely benign |
| rs201408425 | 15:74,474,711 | A/C | — | likely benign |
| rs753144270 | 15:74,474,725 | A/G | — | uncertain significance |
| rs748743382 | 15:74,474,753 | G/T | — | uncertain significance |
| rs368073018 | 15:74,474,761 | C/T | — | uncertain significance |
| rs2505763162 | 15:74,474,765 | G/C | — | uncertain significance |
| rs869025269 | 15:74,474,789 | T/C | missense variant | pathogenic |
| rs1367215268 | 15:74,474,807 | A/T | — | pathogenic |
| rs79510426 | 15:74,474,813 | G/A | — | likely benign |
| rs351240 | 15:74,474,845 | T/G | upstream gene variant | — |
Showing 100 of 248 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.