ALOX12
arachidonate 12-lipoxygenase, 12S type
Summary
This gene encodes a member of the lipoxygenase family of proteins. The encoded enzyme acts on different polyunsaturated fatty acid substrates to generate bioactive lipid mediators including eicosanoids and lipoxins. The encoded enzyme and its reaction products have been shown to regulate platelet function. Elevated expression of this gene has been observed in pancreatic islets derived from human diabetes patients. Allelic variants in this gene may be associated with susceptibility to toxoplasmosis. Multiple pseudogenes of this gene have been identified in the human genome. [provided by RefSeq, Aug 2017]
Known Variants74 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3840880 | 17:6,897,844 | — | — | — |
| rs11571357 | 17:6,898,322 | C/T | coding sequence variant | — |
| rs9904779 | 17:6,898,615 | C/T | — | — |
| rs9897850 | 17:6,899,118 | C/T | regulatory region variant | benign |
| rs312466 | 17:6,899,221 | G/A | — | benign |
| rs1358767483 | 17:6,899,497 | C/A | — | uncertain significance |
| rs312467 | 17:6,899,559 | C/G | — | benign |
| rs3218667 | 17:6,899,629 | C/T | — | benign |
| rs167494 | 17:6,899,731 | T/C | — | benign |
| rs2073438 | 17:6,900,076 | G/A | regulatory region variant | benign |
| rs199823896 | 17:6,900,216 | C/A | — | uncertain significance |
| rs1908468824 | 17:6,900,232 | G/A | — | uncertain significance |
| rs1291925434 | 17:6,900,284 | T/C | — | likely benign |
| rs2070589 | 17:6,900,362 | C/T | — | benign |
| rs312468 | 17:6,900,383 | T/C | — | benign |
| rs2070590 | 17:6,900,444 | T/G | — | benign |
| rs2292350 | 17:6,901,672 | G/A | upstream gene variant | benign |
| rs369933448 | 17:6,901,830 | C/T | — | uncertain significance |
| rs148560839 | 17:6,901,831 | G/A | — | uncertain significance |
| rs145526271 | 17:6,901,839 | G/C | — | likely benign |
| rs2507769067 | 17:6,901,885 | T/G | — | uncertain significance |
| rs750502947 | 17:6,901,894 | G/A | — | uncertain significance |
| rs2507770025 | 17:6,902,155 | G/A | — | uncertain significance |
| rs312470 | 17:6,902,179 | G/A | regulatory region variant | benign |
| rs770574244 | 17:6,902,277 | T/C | — | uncertain significance |
| rs115276151 | 17:6,902,295 | G/A | — | benign |
| rs144442382 | 17:6,902,300 | T/C | — | uncertain significance |
| rs2307215 | 17:6,902,459 | T/C | — | benign |
| rs758548271 | 17:6,902,706 | G/A | — | uncertain significance |
| rs1042356 | 17:6,902,743 | G/A | — | benign |
| rs1126667 | 17:6,902,760 | A/G | missense variant | benign |
| rs751879724 | 17:6,902,775 | A/G | — | likely benign |
| rs11571333 | 17:6,902,810 | A/T | — | benign |
| rs2292352 | 17:6,902,887 | A/G | — | benign |
| rs2292353 | 17:6,903,537 | G/A | — | benign |
| rs11078659 | 17:6,903,944 | A/G | — | benign |
| rs312472 | 17:6,903,998 | C/T | — | benign |
| rs434473 | 17:6,904,934 | A/G | missense variant | benign |
| rs1385851103 | 17:6,904,935 | C/A | — | uncertain significance |
| rs368950205 | 17:6,904,955 | C/A | — | uncertain significance |
| rs183466632 | 17:6,904,979 | C/G | — | uncertain significance |
| rs140313041 | 17:6,904,998 | A/C | — | likely benign |
| rs143493293 | 17:6,905,060 | C/T | — | uncertain significance |
| rs1042357 | 17:6,905,061 | G/T | — | benign |
| rs971490697 | 17:6,905,062 | C/G | — | uncertain significance |
| rs11571337 | 17:6,905,358 | C/T | — | benign |
| rs2920421 | 17:6,907,070 | A/C | — | — |
| rs11571340 | 17:6,908,219 | A/G | regulatory region variant | — |
| rs770875010 | 17:6,908,594 | C/T | — | uncertain significance |
| rs750040565 | 17:6,908,622 | C/T | — | uncertain significance |
| rs147158964 | 17:6,908,625 | G/A | — | likely benign |
| rs11078661 | 17:6,908,903 | A/G | — | benign |
| rs11571342 | 17:6,909,217 | G/A | — | benign |
| rs746037681 | 17:6,909,309 | G/A | — | uncertain significance |
| rs1460498427 | 17:6,909,341 | T/G | — | uncertain significance |
| rs733060 | 17:6,909,378 | C/T | — | benign |
| rs2307214 | 17:6,909,838 | A/G | synonymous variant | benign |
| rs376641311 | 17:6,909,890 | A/T | — | uncertain significance |
| rs11571345 | 17:6,910,208 | A/G | — | benign |
| rs11571346 | 17:6,910,211 | T/G | — | benign |
| rs434844 | 17:6,910,988 | G/C | upstream gene variant | — |
| rs11571364 | 17:6,911,691 | G/A | upstream gene variant | — |
| rs34008808 | 17:6,912,802 | T/A | — | benign |
| rs11571352 | 17:6,913,046 | G/A | — | benign |
| rs184982217 | 17:6,913,119 | T/A | — | uncertain significance |
| rs552917054 | 17:6,913,129 | C/T | — | uncertain significance |
| rs771881031 | 17:6,913,144 | A/G | — | uncertain significance |
| rs142117156 | 17:6,913,369 | G/C | — | uncertain significance |
| rs764461201 | 17:6,913,429 | G/A | — | uncertain significance |
| rs758433028 | 17:6,913,432 | G/A | — | uncertain significance |
| rs766437151 | 17:6,913,566 | C/G | — | uncertain significance |
| rs371931467 | 17:6,913,603 | C/T | — | uncertain significance |
| rs312462 | 17:6,913,652 | G/A | synonymous variant | benign |
| rs763214596 | 17:6,913,738 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.