KDM5D

lysine demethylase 5D

Summary

This gene encodes a protein containing zinc finger domains. A short peptide derived from this protein is a minor histocompatibility antigen which can lead to graft rejection of male donor cells in a female recipient. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]

Known Variants50 total

rsidPosition (GRCh37)AllelesClassClinVar
rs2032629Y:21,865,821G/Adownstream gene variant—
rs2032611Y:21,866,424A/G——
rs2032612Y:21,866,491C/T——
rs2032630Y:21,866,840T/A——
rs13447377Y:21,867,718C/T——
rs2032631Y:21,867,787A/T——
rs35681523Y:21,868,068C/Tmissense variant—
rs2032632Y:21,868,672T/Csplice region variant—
rs2032633Y:21,868,726T/Csynonymous variant—
rs34078768Y:21,868,863G/A——
rs2032620Y:21,869,264G/Asynonymous variant—
rs371646183Y:21,869,519C/Tsynonymous variant—
rs199572451Y:21,869,856C/Tsynonymous variant—
rs35247789Y:21,869,923C/Tmissense variant—
rs2032625Y:21,870,638G/A——
rs2032621Y:21,872,738T/C——
rs2032622Y:21,872,886A/T——
rs2032641Y:21,873,287C/T——
rs2032623Y:21,878,072———
rs13447368Y:21,878,708G/A——
rs13447367Y:21,878,762G/T——
rs2032628Y:21,878,809A/T——
rs13447369Y:21,878,825C/T——
rs2032627Y:21,881,573A/C——
rs796993763Y:21,888,865A/C——
rs3212283Y:21,889,536G/C——
rs2032635Y:21,889,767A/G——
rs2032639Y:21,890,177G/A——
rs2032640Y:21,892,572C/Tintron variant—
rs2032618Y:21,893,753C/Amissense variant—
rs72625372Y:21,893,864C/Tintron variant—
rs2032672Y:21,893,881A/Cintron variant—
rs2032673Y:21,894,058T/Csplice region variant—
rs2032637Y:21,894,407A/G——
rs2032638Y:21,894,447C/T——
rs2032616Y:21,896,216C/A——
rs2032617Y:21,896,261G/T——
rs3212285Y:21,897,363T/Amissense variant—
rs3212286Y:21,898,279C/A——
rs3212287Y:21,899,888T/C——
rs3212288Y:21,900,347G/C——
rs2032645Y:21,900,849A/G——
rs2032626Y:21,903,383A/Gintron variant—
rs112779735Y:21,903,853G/A——
rs2032648Y:21,904,023T/C——
rs2032643Y:21,905,917T/G——
rs2032644Y:21,906,109T/C——
rs372362604Y:21,906,265A/T——
rs34694026Y:21,906,607T/C——
rs3212289Y:21,907,648A/C——

Gene information from NCBI Gene. Variant classifications from ClinVar.