C20orf203

chromosome 20 open reading frame 203

Summary

The protein encoded by this gene is thought to be a human-specific protein. Currently available evidence suggests that orthologous regions in other organisms contain sequence differences that would not support production of a protein product. Genome-wide association studies have suggested the possibility that a SNP in the 3' UTR, rs17123507, could be associated with nicotine addiction. Expression of this gene may be elevated in some individuals with Alzheimer's disease. [provided by RefSeq, Mar 2017]

Known Variants11 total

rsidPosition (GRCh37)AllelesClassClinVar
rs614176620:31,222,769A/Gregulatory region variant
rs77034027520:31,230,433C/T
rs3510332920:31,238,139G/Acoding sequence variant
rs76443366220:31,238,244A/Guncertain significance
rs75067049620:31,238,559G/Auncertain significance
rs76656381120:31,238,589T/Guncertain significance
rs1303696220:31,239,010T/G
rs605879620:31,255,829C/Tintron variant
rs614177920:31,259,366C/Tintron variant
rs614133320:31,263,324C/T
rs614178120:31,263,342C/Tupstream gene variant

Gene information from NCBI Gene. Variant classifications from ClinVar.