TRIM40

tripartite motif containing 40

Summary

This gene encodes a member of the tripartite motif (TRIM) protein family. The encoded protein may play a role as a negative regulator against inflammation and carcinogenesis in the gastrointestinal tract. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014]

Known Variants22 total

rsidPosition (GRCh37)AllelesClassClinVar
rs30946776:30,102,958T/Aupstream gene variant—
rs1415200036:30,104,816G/A—likely benign
rs7484130926:30,104,845A/C—uncertain significance
rs24809256046:30,104,850G/A—likely benign
rs7668623896:30,104,917G/A—uncertain significance
rs9845896936:30,105,003G/C—uncertain significance
rs13614427986:30,105,060G/A—uncertain significance
rs1997238486:30,105,087G/A—uncertain significance
rs1468586126:30,105,103C/T—uncertain significance
rs287800866:30,105,154A/Gmissense variant—
rs28447896:30,112,795G/T——
rs7608380316:30,113,786C/T—uncertain significance
rs17716250306:30,113,823A/G—uncertain significance
rs1488125426:30,113,847A/C—uncertain significance
rs22561466:30,114,307G/Cintron variant—
rs38150796:30,114,365A/Tintron variant—
rs31321246:30,114,402A/Tintron variant—
rs7719077606:30,114,859G/A—likely benign
rs2002820026:30,114,960A/G—uncertain significance
rs1392225116:30,114,976A/G—likely benign
rs1441560376:30,115,153G/Adownstream gene variant—
rs1156511426:30,115,320G/T—benign

Gene information from NCBI Gene. Variant classifications from ClinVar.