CD320

CD320 molecule

Summary

This gene encodes the transcobalamin receptor that is expressed at the cell surface. It mediates the cellular uptake of transcobalamin bound cobalamin (vitamin B12), and is involved in B-cell proliferation and immunoglobulin secretion. Mutations in this gene are associated with methylmalonic aciduria. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011]

Known Variants145 total

rsidPosition (GRCh37)AllelesClassClinVar
rs942619:8,367,158C/T3 prime UTR variantbenign
rs223278819:8,367,218G/A—benign
rs19984105619:8,367,264G/C—benign
rs223278719:8,367,356C/T—likely benign
rs130461959119:8,367,357G/A—uncertain significance
rs222728919:8,367,359G/C—benign
rs20186995119:8,367,396G/A—uncertain significance
rs100646449219:8,367,407C/T—likely benign
rs37003844019:8,367,417C/T—uncertain significance
rs14315673219:8,367,423C/T—uncertain significance
rs14619080219:8,367,424G/A—benign
rs223278619:8,367,427C/T—likely benign
rs36934729519:8,367,435C/T—uncertain significance
rs75076044919:8,367,436G/T—uncertain significance
rs20060755519:8,367,437G/A—likely benign
rs11505491219:8,367,451G/A—likely benign
rs55793998519:8,367,465G/A—uncertain significance
rs14080327019:8,367,474C/T—likely benign
rs76887057319:8,367,488C/T—uncertain significance
rs77672777519:8,367,489G/A—likely benign
rs25051119:8,367,504T/A—benign
rs222728819:8,367,525G/C—benign
rs142366021719:8,367,682A/G—uncertain significance
rs14972117419:8,367,686A/G—likely benign
rs76674001019:8,367,688T/C—uncertain significance
rs251259460719:8,367,707T/G—likely benign
rs233657319:8,367,709C/Tmissense variantbenign
rs36808989819:8,367,710G/A—likely benign
rs55039007519:8,367,733C/A—uncertain significance
rs37725228419:8,367,734G/A—likely benign
rs159962090119:8,367,737A/T—likely benign
rs13907592319:8,367,754G/A—likely benign
rs251259476519:8,367,768C/A—uncertain significance
rs77607097019:8,367,779G/C—likely benign
rs197003017019:8,367,781C/A—uncertain significance
rs37267822519:8,367,812C/T—likely benign
rs52962996519:8,367,816G/A—uncertain significance
rs7965826019:8,367,845C/A—likely benign
rs36802490619:8,367,846G/A—uncertain significance
rs14380354219:8,367,848G/A—likely benign
rs14690060919:8,367,858T/C—uncertain significance
rs55805644819:8,367,861G/A—uncertain significance
rs76621587019:8,367,881C/A—likely benign
rs11426536819:8,367,882G/A—benign
rs11503958719:8,367,912C/A—benign
rs287874019:8,367,988G/A—benign
rs660316219:8,368,018G/T—benign
rs660316319:8,368,019G/A—benign
rs724599119:8,368,108A/C—benign
rs5630378019:8,368,142A/C—benign
rs11155880219:8,368,158G/A—benign
rs11346777519:8,368,430C/T—benign
rs291394319:8,368,442G/T—benign
rs223278519:8,368,621C/T—benign
rs77734698719:8,368,726C/G—likely benign
rs251259620719:8,368,736T/C—uncertain significance
rs146055019119:8,368,739C/T—uncertain significance
rs76943888019:8,368,744C/A—uncertain significance
rs19954549619:8,368,746G/C—likely benign
rs76729412019:8,368,754C/T—uncertain significance
rs251259627919:8,368,755G/A—likely benign
rs223278419:8,368,758G/A—benign
rs18815811419:8,368,763C/T—uncertain significance
rs20182844319:8,368,764G/T—likely benign
rs75051019519:8,368,782G/A—likely benign
rs75848569619:8,368,785G/A—likely benign
rs76915046319:8,368,790G/A—uncertain significance
rs223278319:8,368,794C/A—benign
rs20162409019:8,368,795G/A—likely benign
rs14621803919:8,368,803A/G—benign
rs76732481619:8,368,814C/T—uncertain significance
rs76399101219:8,368,828C/G—uncertain significance
rs20116660519:8,368,829G/T—uncertain significance
rs37200563319:8,368,836G/A—likely benign
rs75184159219:8,368,837C/A—uncertain significance
rs13906461119:8,368,855C/A—uncertain significance
rs14409770119:8,368,863G/A—likely benign
rs37531083319:8,368,867C/T—likely benign
rs138125117719:8,368,868G/A—uncertain significance
rs100336669319:8,368,885C/A—uncertain significance
rs125850530419:8,368,891G/A—uncertain significance
rs93968644619:8,368,897T/C—uncertain significance
rs77510301819:8,368,901T/C—uncertain significance
rs76052495319:8,368,904C/T—conflicting classifications of pathogenicity
rs94857620819:8,368,907C/T—uncertain significance
rs54005747619:8,368,908G/A—likely benign
rs36964636519:8,368,923G/A—likely benign
rs86721529219:8,368,927C/A—uncertain significance
rs75507362419:8,368,935C/T—likely benign
rs76789789219:8,368,936G/A—uncertain significance
rs145950032219:8,368,939G/C—uncertain significance
rs18106601319:8,368,956G/A—likely benign
rs37723696519:8,368,964G/A—uncertain significance
rs18630758119:8,368,972C/T—uncertain significance
rs20085230019:8,368,985G/T—likely benign
rs810184219:8,369,221G/C—benign
rs89085619:8,369,265T/C—benign
rs810196319:8,369,379G/Adownstream gene variant—
rs11431103519:8,369,609T/C—benign
rs7960247819:8,369,664G/A—benign

Showing 100 of 145 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.