TAP1

transporter 1, ATP binding cassette subfamily B member

Summary

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is involved in the pumping of degraded cytosolic peptides across the endoplasmic reticulum into the membrane-bound compartment where class I molecules assemble. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]

Known Variants369 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5411489836:32,813,280T/G—likely benign
rs13239703816:32,813,364G/A—uncertain significance
rs7463307696:32,813,379C/G—uncertain significance
rs15542425146:32,813,384A/G—uncertain significance
rs7807661186:32,813,388T/C—uncertain significance
rs13184095306:32,813,390G/A—uncertain significance
rs17703195486:32,813,416G/A—likely benign
rs748974846:32,813,421G/T—likely benign
rs7683484256:32,813,436C/A—uncertain significance
rs7719450266:32,813,448C/T—uncertain significance
rs7483684176:32,813,449G/A—likely benign
rs9376047776:32,813,454C/A—uncertain significance
rs13820078236:32,813,458C/A—likely benign
rs17703261026:32,813,459A/C—uncertain significance
rs12729067926:32,813,463A/G—uncertain significance
rs10559562896:32,813,464G/T—likely benign
rs7528126866:32,813,472G/C—uncertain significance
rs7642426416:32,813,482C/T—likely benign
rs14140819666:32,813,508T/C—uncertain significance
rs15826219276:32,813,509G/A—likely benign
rs5663293196:32,813,522C/T—uncertain significance
rs5638994056:32,813,523G/A—uncertain significance
rs1929600526:32,813,526A/T—uncertain significance
rs563370366:32,813,527G/A—likely benign
rs2007534476:32,813,531C/G—uncertain significance
rs7477166126:32,813,532G/A—uncertain significance
rs11995671676:32,813,537G/A—uncertain significance
rs21273841966:32,813,541T/C—uncertain significance
rs17703409966:32,813,556G/T—uncertain significance
rs21273842616:32,813,572G/C—likely benign
rs5288629846:32,813,575A/G—likely benign
rs1400177676:32,813,576T/G—benign
rs5384760756:32,813,577C/G—likely benign
rs7804803206:32,813,578G/A—likely benign
rs3687765726:32,813,582C/T—likely benign
rs21273863086:32,814,828G/A—likely benign
rs3719849286:32,814,839C/T—uncertain significance
rs7522538396:32,814,868G/T—uncertain significance
rs7466159396:32,814,890G/A—likely benign
rs12636246226:32,814,901A/G—uncertain significance
rs415515156:32,814,902C/T—benign
rs21273864346:32,814,904G/A—uncertain significance
rs1219177026:32,814,909C/Tmissense variantpathogenic
rs9465362156:32,814,910G/A—uncertain significance
rs7457313676:32,814,917T/A—likely benign
rs7696123916:32,814,921C/T—uncertain significance
rs7492362826:32,814,923G/A—likely benign
rs7720906676:32,814,928A/T—uncertain significance
rs3690746106:32,814,929C/T—likely benign
rs14588319136:32,814,930G/A—uncertain significance
rs10571496:32,814,942C/T—likely benign
rs14887917756:32,814,947A/G—likely benign
rs7655276076:32,814,948C/G—uncertain significance
rs415598156:32,814,958G/A—likely benign
rs7568436316:32,814,967C/T—uncertain significance
rs14592249126:32,814,969G/A—uncertain significance
rs1132531136:32,814,974G/A—likely benign
rs11352166:32,814,975T/Cmissense variantlikely benign
rs7798450526:32,814,979C/T—uncertain significance
rs5504933026:32,814,995G/A—likely benign
rs3740804196:32,815,272G/C—likely benign
rs17705056616:32,815,278T/C—likely benign
rs7811072946:32,815,286G/T—uncertain significance
rs21273870536:32,815,341T/C—uncertain significance
rs24831393746:32,815,347C/T—uncertain significance
rs17705127436:32,815,355G/A—uncertain significance
rs17705129506:32,815,357G/A—likely benign
rs7659582286:32,815,368T/C—uncertain significance
rs24831395946:32,815,380G/A—pathogenic
rs15826292236:32,815,381G/A—likely benign
rs24831396336:32,815,389C/T—uncertain significance
rs12658050576:32,815,393G/A—likely benign
rs7562276646:32,815,395C/A—uncertain significance
rs24831397526:32,815,404C/A—pathogenic
rs1456919386:32,815,410G/C—uncertain significance
rs3680268686:32,815,411A/C—uncertain significance
rs9942029396:32,815,421A/G—uncertain significance
rs5719262116:32,815,423T/C—likely benign
rs8965633116:32,815,425C/T—uncertain significance
rs10240694656:32,815,440C/T—uncertain significance
rs24831402186:32,815,446C/T—uncertain significance
rs21273872136:32,815,447A/G—likely benign
rs24831403296:32,815,456A/C—likely benign
rs7591637196:32,815,694A/G—likely pathogenic
rs13314727426:32,815,698G/A—pathogenic
rs13280427276:32,815,709T/C—uncertain significance
rs11685602656:32,815,713G/A—uncertain significance
rs17705389616:32,815,714G/T—uncertain significance
rs7583744186:32,815,723T/C—likely benign
rs10450539736:32,815,724T/C—uncertain significance
rs17705407996:32,815,726G/A—likely benign
rs24831428176:32,815,737T/A—pathogenic
rs21273875616:32,815,747C/A—likely benign
rs21273875906:32,815,760C/A—uncertain significance
rs3776211916:32,815,762G/A—likely benign
rs7474998876:32,815,771G/A—likely benign
rs21273876356:32,815,774C/A—likely benign
rs17705497436:32,815,820G/T—uncertain significance
rs3708753926:32,815,832G/A—uncertain significance
rs5300260986:32,815,834C/T—likely benign

Showing 100 of 369 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.