TBXAS1

thromboxane A synthase 1

Pharmacogene

Summary

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to thromboxane A2, a potent vasoconstrictor and inducer of platelet aggregation. The enzyme plays a role in several pathophysiological processes including hemostasis, cardiovascular disease, and stroke. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

Known Variants249 total

rsidPosition (GRCh37)AllelesClassClinVar
rs20413347:139,504,611C/Gintron variant—
rs102776647:139,506,580C/Tintron variant—
rs171611577:139,521,462C/Tintron variant—
rs45903607:139,528,662G/T—benign
rs3706263997:139,529,184G/A—uncertain significance
rs1482075227:139,529,191T/C—uncertain significance
rs7754936457:139,529,204G/T—likely benign
rs7588311957:139,529,220G/C—uncertain significance
rs617335867:139,529,239C/T—uncertain significance
rs2016005757:139,529,240G/A—conflicting classifications of pathogenicity
rs8944271387:139,529,246C/T—likely benign
rs3747294677:139,529,264G/A—benign
rs1941517:139,557,947C/Tintron variant—
rs7656869397:139,572,033G/Asplice region variantpathogenic
rs7529778567:139,572,045C/T—uncertain significance
rs1378999057:139,572,056A/G—uncertain significance
rs24873728447:139,572,114C/G—uncertain significance
rs1430359307:139,572,122C/T—conflicting classifications of pathogenicity
rs7531667447:139,572,130A/G—uncertain significance
rs3685065897:139,572,132G/A—likely benign
rs7578135977:139,572,134G/A—likely benign
rs7786290757:139,572,145T/G—likely benign
rs7761902517:139,575,369C/T—likely benign
rs9630296717:139,575,384G/T—uncertain significance
rs7750125197:139,575,393G/T—pathogenic
rs7626283617:139,575,401A/C—conflicting classifications of pathogenicity
rs1404633787:139,575,408C/T—benign
rs7681249777:139,575,424G/A—uncertain significance
rs24873983557:139,575,444G/A—likely benign
rs1444256777:139,575,469C/T—likely benign
rs78107277:139,591,860C/Tintron variant—
rs25355815667:139,611,025T/C—uncertain significance
rs7725855237:139,611,030T/C—likely benign
rs1400052857:139,611,032T/Cmissense variantpathogenic
rs25355817827:139,611,034G/C—uncertain significance
rs1931107207:139,611,038G/T—uncertain significance
rs1842695627:139,611,050T/C—uncertain significance
rs1498146927:139,611,052G/A—uncertain significance
rs1447893797:139,611,061G/A—uncertain significance
rs7545656497:139,611,084G/A—likely benign
rs3708719167:139,611,089T/A—uncertain significance
rs57667:139,611,124C/T—conflicting classifications of pathogenicity
rs25355828687:139,611,135T/A—likely benign
rs25355829137:139,611,137C/G—likely benign
rs3769806897:139,611,138C/T—likely benign
rs1497659087:139,611,139G/A—benign
rs8673587377:139,612,931G/A—likely benign
rs7702779437:139,635,972C/T—likely benign
rs57677:139,635,975G/A—likely benign
rs1399764417:139,635,991C/T—uncertain significance
rs7765353637:139,635,992G/A—likely benign
rs5454702167:139,635,994C/T—conflicting classifications of pathogenicity
rs7733093987:139,636,012C/T—uncertain significance
rs412750187:139,636,013G/A—likely benign
rs15848937787:139,636,017G/A—uncertain significance
rs3687196787:139,636,020G/A—conflicting classifications of pathogenicity
rs18077657447:139,636,022C/T—likely benign
rs81928337:139,636,026G/A—conflicting classifications of pathogenicity
rs9603688747:139,636,038C/T—uncertain significance
rs10461744297:139,636,052G/A—pathogenic
rs3696442657:139,636,070C/G—likely benign
rs1423591817:139,636,097G/C—uncertain significance
rs1996666727:139,636,103C/T—benign
rs7697385107:139,636,104G/A—uncertain significance
rs7751306227:139,636,106G/A—uncertain significance
rs13446657937:139,636,112A/G—uncertain significance
rs7629904957:139,636,122T/C—likely benign
rs13820202617:139,653,159A/G—uncertain significance
rs7576134877:139,653,180T/A—uncertain significance
rs5437827167:139,653,189C/A—uncertain significance
rs1501395107:139,653,219G/A—conflicting classifications of pathogenicity
rs3681218997:139,653,222A/G—uncertain significance
rs7759680617:139,653,225C/T—uncertain significance
rs7646893497:139,653,226G/A—likely benign
rs2012797737:139,653,238C/T—likely benign
rs5518161077:139,653,264G/A—likely benign
rs13207243047:139,653,267G/T—likely benign
rs47255637:139,654,256C/Tintron variant—
rs3749645187:139,655,244C/T—likely benign
rs13872894337:139,655,246C/T—likely benign
rs7582216567:139,655,273C/T—likely benign
rs3726768197:139,655,276C/A—likely benign
rs7571906657:139,655,294C/T—likely benign
rs3720587617:139,655,295G/A—uncertain significance
rs7691317797:139,655,298G/A—uncertain significance
rs7798801937:139,655,302T/C—uncertain significance
rs13463272257:139,655,307A/C—uncertain significance
rs5608183437:139,655,308C/A—conflicting classifications of pathogenicity
rs1386121267:139,655,310C/G—conflicting classifications of pathogenicity
rs1402784267:139,655,311C/T—uncertain significance
rs7622921957:139,655,312G/A—likely benign
rs7527305317:139,655,315G/A—likely benign
rs13543460397:139,655,323G/A—uncertain significance
rs1431251117:139,655,339T/A—conflicting classifications of pathogenicity
rs1379466977:139,655,341C/G—conflicting classifications of pathogenicity
rs7572016337:139,655,347T/A—uncertain significance
rs1423137977:139,655,354C/T—likely benign
rs25357580637:139,655,360G/A—likely benign
rs18097995567:139,655,384C/T—likely benign
rs5287807837:139,655,396G/A—likely benign

Showing 100 of 249 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.