RPTN

repetin

Summary

Predicted to enable calcium ion binding activity and transition metal ion binding activity. Predicted to be located in cytosol. Predicted to be active in cornified envelope. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants50 total

rsidPosition (GRCh37)AllelesClassClinVar
rs25267899461:152,127,284T/Auncertain significance
rs8672049091:152,127,317C/Tlikely benign
rs25267901601:152,127,326T/Cuncertain significance
rs2016802351:152,127,372T/Clikely benign
rs5333778381:152,127,380C/Tlikely benign
rs7656972261:152,127,408C/Tuncertain significance
rs7802215281:152,127,417C/Tuncertain significance
rs25267907371:152,127,426G/Auncertain significance
rs13412727041:152,127,465A/Guncertain significance
rs7772421541:152,127,642C/Tlikely benign
rs12521583641:152,127,678C/Tuncertain significance
rs13713417411:152,127,707G/Auncertain significance
rs14829137341:152,127,738A/Guncertain significance
rs5738333141:152,127,830T/Cuncertain significance
rs3685313991:152,127,854G/Cuncertain significance
rs25267924601:152,127,938T/Cuncertain significance
rs13190977081:152,128,081A/Glikely benign
rs2011811321:152,128,091T/Cuncertain significance
rs7765499561:152,128,133T/Auncertain significance
rs2002596941:152,128,139T/Guncertain significance
rs5628869541:152,128,143G/Tlikely benign
rs1995662421:152,128,194A/Guncertain significance
rs5562174141:152,128,223T/Cuncertain significance
rs7487513951:152,128,241T/Guncertain significance
rs7737212961:152,128,250G/Auncertain significance
rs25267942291:152,128,254G/Cuncertain significance
rs7656181351:152,128,331T/Cuncertain significance
rs5679659371:152,128,364C/Tuncertain significance
rs2005030981:152,128,401C/Tuncertain significance
rs1815166721:152,128,418T/Clikely benign
rs7516594671:152,128,448C/Auncertain significance
rs5277824081:152,128,610G/Auncertain significance
rs25267959631:152,128,884A/Guncertain significance
rs2021032551:152,128,886C/Tlikely benign
rs7637629511:152,128,896C/Guncertain significance
rs25267960651:152,128,920C/Tlikely benign
rs7481768621:152,128,931G/Auncertain significance
rs25267964291:152,129,028T/Guncertain significance
rs760151121:152,129,094A/Gmissense variant
rs1175964681:152,129,101A/Glikely benign
rs2014122171:152,129,102T/Cuncertain significance
rs7538365271:152,129,122T/Auncertain significance
rs7811336951:152,129,144G/Auncertain significance
rs1901025631:152,129,208G/Cuncertain significance
rs1813392241:152,129,244A/Glikely benign
rs25267974501:152,129,402A/Guncertain significance
rs2010477611:152,129,425G/Tuncertain significance
rs12722271001:152,130,244A/Guncertain significance
rs7704305171:152,130,272C/Tuncertain significance
rs7597244701:152,130,314A/Guncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.