TCN1

transcobalamin 1

Summary

This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This protein is a major constituent of secondary granules in neutrophils and facilitates the transport of cobalamin into cells. [provided by RefSeq, Jul 2008]

Known Variants120 total

rsidPosition (GRCh37)AllelesClassClinVar
rs18649946011:59,620,339A/G3 prime UTR variant—
rs14718738311:59,620,464C/T—uncertain significance
rs18969608411:59,620,488C/T—uncertain significance
rs20052994811:59,620,495C/T—uncertain significance
rs37267922511:59,620,516A/T—likely benign
rs37694666511:59,620,518G/A—likely benign
rs20204215311:59,620,525A/C—likely benign
rs140533519411:59,620,670C/T—likely benign
rs75526812211:59,620,684A/G—uncertain significance
rs75110776111:59,620,687G/A—uncertain significance
rs14063280011:59,620,691C/T—uncertain significance
rs57111192711:59,620,695T/G—benign
rs53817928711:59,620,735G/T—likely benign
rs75514049211:59,620,739A/G—uncertain significance
rs76012378311:59,620,743G/A—likely benign
rs125002726511:59,620,745C/A—uncertain significance
rs74573581111:59,620,765G/A—uncertain significance
rs143364468411:59,620,780T/A—uncertain significance
rs76704926211:59,620,810A/C—likely benign
rs75201952711:59,620,813A/G—likely benign
rs7813688311:59,621,010G/T—benign
rs37005447411:59,622,116C/T—likely benign
rs36792867011:59,622,132T/C—benign
rs91120531311:59,622,175G/T—likely benign
rs120321265211:59,622,231A/C—uncertain significance
rs20116070611:59,622,240C/T—uncertain significance
rs77252555111:59,622,241G/A—likely benign
rs14280530811:59,622,246T/C—conflicting classifications of pathogenicity
rs76445003311:59,622,248T/G—likely benign
rs185291243211:59,622,252A/C—uncertain significance
rs3604489211:59,622,266G/C—uncertain significance
rs13884675811:59,622,292G/A—likely benign
rs54944204911:59,622,295G/T—likely benign
rs249573671011:59,623,325C/A—likely benign
rs7255075811:59,623,354C/T—likely benign
rs14625093211:59,623,355G/A—likely benign
rs53674618311:59,623,369T/C—uncertain significance
rs138620404611:59,623,370G/A—likely benign
rs3432421911:59,623,378A/C—benign
rs14345737411:59,623,400G/A—likely benign
rs7255075911:59,623,424G/A—likely benign
rs104261311:59,623,433A/G—benign
rs37509966711:59,623,443C/T—uncertain significance
rs249573729611:59,623,473A/G—uncertain significance
rs13959589411:59,623,503T/C—uncertain significance
rs146078783611:59,623,509T/C—uncertain significance
rs121761186411:59,623,529G/C—likely benign
rs77134250311:59,623,546T/G—benign
rs77525536311:59,623,551T/G—benign
rs14794286811:59,626,567T/C—uncertain significance
rs75114485011:59,626,570T/G—uncertain significance
rs124263041011:59,626,591C/T—uncertain significance
rs14382468711:59,626,614A/G—uncertain significance
rs74717291611:59,626,635G/A—uncertain significance
rs76232616911:59,626,637A/G—likely benign
rs7592719611:59,626,644C/A—likely benign
rs249574243411:59,626,649G/A—likely benign
rs76258499611:59,626,674T/C—uncertain significance
rs249574249111:59,626,675T/C—uncertain significance
rs139446593411:59,626,683C/T—uncertain significance
rs20045007411:59,626,700C/A—uncertain significance
rs185298905611:59,626,710G/A—uncertain significance
rs75435104811:59,626,717C/G—uncertain significance
rs56841457311:59,626,719A/G—uncertain significance
rs19959767711:59,626,723C/T—uncertain significance
rs134678337211:59,626,740T/G—uncertain significance
rs1182297811:59,626,896C/Tintron variant—
rs75519545911:59,628,995C/T—uncertain significance
rs249574601711:59,629,010C/G—uncertain significance
rs14501799011:59,629,014C/T—uncertain significance
rs127391569311:59,629,051G/A—uncertain significance
rs249574618211:59,629,058A/G—likely benign
rs20055404311:59,629,059A/G—uncertain significance
rs77380467911:59,629,064G/A—likely benign
rs18599913811:59,629,067G/C—likely benign
rs20019818811:59,629,083T/C—uncertain significance
rs13977281811:59,629,106G/A—likely benign
rs249574640511:59,629,117G/A—uncertain significance
rs13803957711:59,629,121G/A—likely benign
rs74979361011:59,629,123A/C—uncertain significance
rs36846150311:59,629,137G/A—uncertain significance
rs185301661011:59,629,142G/C—likely benign
rs6698010511:59,629,164G/A—likely benign
rs75393272911:59,629,170A/C—likely benign
rs55756411:59,629,305C/T—benign
rs8007284011:59,630,097C/T—uncertain significance
rs14416685311:59,630,098G/A—likely benign
rs78064171111:59,630,111T/A—uncertain significance
rs3528764611:59,630,112C/T—conflicting classifications of pathogenicity
rs19955750011:59,630,118T/C—uncertain significance
rs75753169711:59,630,133C/T—uncertain significance
rs37372915811:59,630,155C/T—likely benign
rs19079718311:59,630,179C/T—likely benign
rs76635661211:59,630,180G/A—uncertain significance
rs54377910111:59,630,203G/C—likely benign
rs213511020311:59,630,205A/G—likely benign
rs78047690511:59,630,210A/G—likely benign
rs75555152211:59,631,395T/G—uncertain significance
rs128309684811:59,631,424A/G—uncertain significance
rs37241490411:59,631,425T/A—uncertain significance

Showing 100 of 120 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.