CHTF18

chromosome transmission fidelity factor 18

Summary

This gene encodes a protein which is a component of a replication factor C (RFC) complex, which loads proliferating cell nuclear antigen (PCNA) on to DNA during the S phase of cell cycle. The encoded protein may interact with other proteins, including RFC complex 3, to form a clamp loader complex that plays a role in sister chromatid cohesion during metaphase-anaphase transition. [provided by RefSeq, Jan 2016]

Known Variants133 total

rsidPosition (GRCh37)AllelesClassClinVar
rs54995184016:836,765C/Tupstream gene variant
rs76545019316:838,691G/Auncertain significance
rs74817803216:838,710G/Alikely benign
rs76745730516:838,727T/Auncertain significance
rs254430467216:838,730C/Auncertain significance
rs55315258316:838,931G/Auncertain significance
rs75290005316:838,948C/Tuncertain significance
rs78080054416:838,957G/Tuncertain significance
rs75294965416:838,985C/Glikely benign
rs76753365716:839,009C/Tuncertain significance
rs75563897216:839,011A/Glikely benign
rs94011249216:839,124C/Guncertain significance
rs78048240016:839,264C/Tuncertain significance
rs75557720016:839,271G/Tuncertain significance
rs77909140316:839,272A/Tuncertain significance
rs37327098116:839,292C/Glikely benign
rs254431138416:839,309A/Cuncertain significance
rs254431161416:839,326A/Guncertain significance
rs37414472616:839,329C/Tuncertain significance
rs74552055316:839,568C/Guncertain significance
rs20121545516:839,569G/Cuncertain significance
rs52940476716:839,605C/Guncertain significance
rs36977299916:839,617C/Tuncertain significance
rs55151310516:839,630T/Cuncertain significance
rs77202471116:839,637C/Guncertain significance
rs74590673016:839,639A/Guncertain significance
rs7803834916:839,646C/Tbenign
rs76174857716:839,647G/Auncertain significance
rs75341715416:839,662G/Auncertain significance
rs37358723716:839,671G/Tuncertain significance
rs36886175916:839,686C/Tuncertain significance
rs75909845516:839,705C/Tuncertain significance
rs227789916:839,838A/T
rs11414086816:840,267G/Abenign
rs20089169216:840,347C/Tuncertain significance
rs37028039916:840,350C/Tuncertain significance
rs76600947516:840,353G/Auncertain significance
rs14345056016:840,532T/Cbenign
rs20185022016:840,548C/Tuncertain significance
rs76531460416:840,566C/Tuncertain significance
rs37086704616:840,568C/Auncertain significance
rs13953845516:840,580C/Tuncertain significance
rs18539456516:840,581C/Tlikely benign
rs6175409716:840,624T/Abenign
rs18866686516:841,157G/Tlikely benign
rs54425806816:841,168A/Guncertain significance
rs76034276716:841,174G/Auncertain significance
rs19987807916:841,233C/Guncertain significance
rs15127119716:841,238G/Abenign
rs37750548216:841,330T/Cuncertain significance
rs123980413816:841,335G/Auncertain significance
rs74674076616:841,912G/Auncertain significance
rs36958764216:841,917G/Auncertain significance
rs37717796616:841,927C/Tuncertain significance
rs20043060216:841,928T/Alikely benign
rs77169636816:842,231C/Tuncertain significance
rs20060138116:842,249C/Auncertain significance
rs121476852716:842,298G/Cuncertain significance
rs204221913516:842,300G/Auncertain significance
rs128209159816:842,345G/Auncertain significance
rs77377938016:842,463A/Guncertain significance
rs36766866416:842,473G/Auncertain significance
rs75668442016:842,479G/Cuncertain significance
rs20157042016:842,530G/Auncertain significance
rs36902559616:842,532C/Tuncertain significance
rs20139697516:842,550G/Tuncertain significance
rs54783871016:842,577A/Guncertain significance
rs19983640716:843,014C/Tuncertain significance
rs18365444516:843,016C/Abenign
rs74852434616:843,157G/Auncertain significance
rs75894315616:843,160G/Auncertain significance
rs20023305616:843,165C/Tuncertain significance
rs76135622716:843,181G/Alikely benign
rs37651299916:843,186G/Tuncertain significance
rs19972203116:843,199G/Tuncertain significance
rs37618606116:843,228C/Tuncertain significance
rs76895938616:843,235C/Tuncertain significance
rs77329803916:843,246G/Auncertain significance
rs37099076916:843,264C/Guncertain significance
rs36889317616:844,070G/Auncertain significance
rs37773600116:844,076G/Alikely benign
rs100623216516:844,112G/Cuncertain significance
rs77447273016:844,122C/Tuncertain significance
rs37481141616:844,128C/Tuncertain significance
rs37133237416:844,140A/Guncertain significance
rs75128698416:844,151C/Tuncertain significance
rs75700889416:844,152G/Cuncertain significance
rs19980963216:844,161A/Tuncertain significance
rs204230132716:845,148T/Guncertain significance
rs56585077116:845,154G/Tuncertain significance
rs76023433616:845,159C/Tuncertain significance
rs135599107616:845,241A/Guncertain significance
rs120913769916:845,276C/Tuncertain significance
rs6175337416:845,278C/Tbenign
rs139989472416:845,310C/Tuncertain significance
rs77819779416:845,695G/Auncertain significance
rs76739007716:845,725C/Tuncertain significance
rs74932987816:845,743C/Tuncertain significance
rs57045973916:845,746C/Tuncertain significance
rs76623328416:845,752C/Tuncertain significance

Showing 100 of 133 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.