TAPBP

TAP binding protein

Summary

This gene encodes a transmembrane glycoprotein which mediates interaction between newly assembled major histocompatibility complex (MHC) class I molecules and the transporter associated with antigen processing (TAP), which is required for the transport of antigenic peptides across the endoplasmic reticulum membrane. This interaction is essential for optimal peptide loading on the MHC class I molecule. Up to four complexes of MHC class I and this protein may be bound to a single TAP molecule. This protein contains a C-terminal double-lysine motif (KKKAE) known to maintain membrane proteins in the endoplasmic reticulum. This gene lies within the major histocompatibility complex on chromosome 6. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Known Variants245 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1292795497	6:33,269,539	A/C	—	uncertain significance
rs371464306	6:33,269,552	G/T	—	likely benign
rs1768759818	6:33,271,753	G/A	—	likely benign
rs1382973887	6:33,271,758	G/A	—	likely benign
rs73741554	6:33,271,780	T/C	—	benign
rs771709981	6:33,271,888	G/T	—	likely benign
rs2536712646	6:33,271,894	C/G	—	likely benign
rs966303595	6:33,271,897	A/G	—	likely benign
rs765383234	6:33,271,908	C/T	—	uncertain significance
rs1262954313	6:33,271,913	C/G	—	uncertain significance
rs148137345	6:33,271,921	C/T	—	benign
rs2536713119	6:33,271,926	A/G	—	uncertain significance
rs1768780166	6:33,271,937	A/G	—	uncertain significance
rs1382572674	6:33,271,947	C/T	—	uncertain significance
rs144706539	6:33,271,953	A/G	—	benign
rs2150959869	6:33,271,957	A/G	—	likely benign
rs34132052	6:33,271,966	G/A	—	benign
rs138516982	6:33,271,971	C/T	—	likely benign
rs200685500	6:33,271,977	G/A	—	likely benign
rs2536713791	6:33,271,978	G/A	—	likely benign
rs1768785371	6:33,271,991	A/T	—	uncertain significance
rs188271218	6:33,272,000	A/T	—	uncertain significance
rs41266733	6:33,272,054	G/A	—	benign
rs1474545312	6:33,272,063	C/T	—	likely benign
rs2536714583	6:33,272,066	G/A	—	likely benign
rs971104530	6:33,272,074	C/T	—	uncertain significance
rs981203752	6:33,272,081	C/T	—	likely benign
rs372354865	6:33,272,088	G/T	—	uncertain significance
rs375664511	6:33,272,098	C/T	—	uncertain significance
rs369975343	6:33,272,099	G/A	—	likely benign
rs775500161	6:33,272,101	T/G	—	uncertain significance
rs763198738	6:33,272,103	C/T	—	uncertain significance
rs545499119	6:33,272,104	G/A	—	uncertain significance
rs768859558	6:33,272,108	C/T	—	likely benign
rs576739119	6:33,272,109	G/A	—	uncertain significance
rs201263636	6:33,272,112	G/A	—	uncertain significance
rs767948022	6:33,272,114	A/G	—	likely benign
rs914527317	6:33,272,120	G/A	—	likely benign
rs750940622	6:33,272,136	C/T	—	uncertain significance
rs755761081	6:33,272,141	G/A	—	likely benign
rs1768797475	6:33,272,146	A/G	—	uncertain significance
rs145933787	6:33,272,149	G/C	—	uncertain significance
rs377366674	6:33,272,156	A/G	—	likely benign
rs1007511471	6:33,272,179	G/A	—	uncertain significance
rs780116309	6:33,272,180	C/T	—	likely benign
rs139666009	6:33,272,181	G/A	—	uncertain significance
rs774631452	6:33,272,182	G/C	—	uncertain significance
rs1281620948	6:33,272,203	T/G	—	uncertain significance
rs376210117	6:33,272,215	C/T	—	uncertain significance
rs766934909	6:33,272,216	G/A	—	likely benign
rs1768805578	6:33,272,226	C/T	—	uncertain significance
rs529085934	6:33,272,227	G/A	—	uncertain significance
rs200098001	6:33,272,232	G/A	—	likely benign
rs1178082313	6:33,272,234	C/T	—	likely benign
rs374308480	6:33,272,235	G/A	—	uncertain significance
rs1006835992	6:33,272,238	A/G	—	uncertain significance
rs375869909	6:33,272,255	G/A	—	likely benign
rs201074090	6:33,272,258	C/T	—	likely benign
rs781098067	6:33,272,268	C/T	—	uncertain significance
rs749398191	6:33,272,270	G/A	—	likely benign
rs1270992067	6:33,272,271	C/T	—	uncertain significance
rs1022611517	6:33,272,283	C/T	—	uncertain significance
rs11549919	6:33,272,286	C/T	—	likely benign
rs772349873	6:33,272,287	G/A	—	uncertain significance
rs2536717664	6:33,272,295	C/G	—	uncertain significance
rs562048726	6:33,272,309	G/C	—	likely benign
rs200280998	6:33,272,310	C/T	—	uncertain significance
rs61739590	6:33,272,312	C/T	—	benign
rs1450138800	6:33,272,315	A/G	—	likely benign
rs1338891803	6:33,272,335	C/T	—	uncertain significance
rs763682947	6:33,272,336	A/G	—	likely benign
rs566153136	6:33,272,338	G/A	—	likely benign
rs1203367501	6:33,272,349	T/C	—	uncertain significance
rs778870301	6:33,272,351	C/T	—	likely benign
rs767486136	6:33,272,352	G/A	—	uncertain significance
rs750393786	6:33,272,356	G/A	—	uncertain significance
rs772473192	6:33,272,358	G/T	—	uncertain significance
rs199710908	6:33,272,371	C/T	—	uncertain significance
rs1468182307	6:33,272,372	G/A	—	likely benign
rs185298453	6:33,272,376	C/T	—	uncertain significance
rs747417254	6:33,272,377	G/A	—	conflicting classifications of pathogenicity
rs1326100738	6:33,272,398	G/A	—	likely benign
rs555796568	6:33,272,408	G/C	—	likely benign
rs1462974353	6:33,272,412	G/T	—	uncertain significance
rs2536719400	6:33,272,414	T/G	—	uncertain significance
rs200119687	6:33,272,427	G/A	—	likely benign
rs567991452	6:33,272,430	C/T	—	likely benign
rs1479415145	6:33,272,431	G/A	—	likely benign
rs780424793	6:33,272,755	C/T	—	likely benign
rs1350625021	6:33,272,765	C/T	—	uncertain significance
rs1046677566	6:33,272,775	C/T	—	uncertain significance
rs1768869603	6:33,272,784	G/A	—	likely benign
rs2150961490	6:33,272,790	C/A	—	uncertain significance
rs1768871055	6:33,272,795	C/T	—	uncertain significance
rs145571132	6:33,272,814	G/A	—	uncertain significance
rs761456612	6:33,272,815	T/C	—	uncertain significance
rs2536724288	6:33,272,830	G/A	—	likely benign
rs1248082629	6:33,272,835	C/T	—	uncertain significance
rs370619502	6:33,272,838	C/T	—	uncertain significance
rs2071888	6:33,272,855	G/C	missense variant	benign

Showing 100 of 245 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.