SPAG16

sperm associated antigen 16

Summary

Cilia and flagella are comprised of a microtubular backbone, the axoneme, which is organized by the basal body and surrounded by plasma membrane. SPAG16 encodes 2 major proteins that associate with the axoneme of sperm tail and the nucleus of postmeiotic germ cells, respectively (Zhang et al., 2007 [PubMed 17699735]).[supplied by OMIM, Jul 2008]

Known Variants49 total

rsidPosition (GRCh37)AllelesClassClinVar
rs12478515412:214,149,272G/Tuncertain significance
rs3703899452:214,149,284C/Tuncertain significance
rs7576959772:214,160,821A/Guncertain significance
rs24691191702:214,160,827A/Guncertain significance
rs1473029702:214,161,989C/Auncertain significance
rs7653340472:214,162,002T/Auncertain significance
rs1498731912:214,174,786C/Tuncertain significance
rs7787820952:214,174,798C/Tuncertain significance
rs14490438442:214,181,950T/Auncertain significance
rs1510085522:214,182,024G/Cuncertain significance
rs1392877882:214,204,924C/Tuncertain significance
rs3683381112:214,215,248A/Glikely benign
rs7621548282:214,215,311A/Guncertain significance
rs5288538802:214,215,338C/Tuncertain significance
rs729390072:214,226,271G/A
rs7527781462:214,239,746G/Auncertain significance
rs12096975412:214,239,761C/Tuncertain significance
rs7782915372:214,239,790C/Tuncertain significance
rs7476362402:214,239,791G/Auncertain significance
rs7692198842:214,354,700C/Tuncertain significance
rs101676882:214,354,714C/Abenign
rs3725441742:214,354,742A/Guncertain significance
rs67073872:214,548,537G/Aintron variant
rs104980152:214,717,579C/Aintron variant
rs22482142:214,727,205G/Tbenign
rs1385467402:214,727,241T/Auncertain significance
rs9393346702:214,727,259G/Auncertain significance
rs1423573292:214,794,778C/Tuncertain significance
rs7474740992:214,794,781G/Auncertain significance
rs7651974142:214,794,808T/Guncertain significance
rs5575738252:214,794,811G/Auncertain significance
rs1149655282:214,818,489C/Aintron variant
rs97893472:214,838,513G/Tintron variant
rs7568173332:214,878,719A/Tuncertain significance
rs24713469742:214,878,755T/Cuncertain significance
rs15105522:214,917,402A/Cintron variant
rs13527881292:214,972,969C/Auncertain significance
rs1493176052:214,972,983A/Guncertain significance
rs3739885642:215,013,919G/Auncertain significance
rs7497036262:215,013,947T/Auncertain significance
rs21255680692:215,013,972G/Tuncertain significance
rs130048822:215,051,957C/Tintron variant
rs168517712:215,188,619A/Gintron variant
rs130238322:215,219,808G/Aintron variant
rs1397709132:215,232,913G/Tintron variant
rs7758492212:215,274,950G/Cuncertain significance
rs2004807782:215,274,963A/Guncertain significance
rs10029004152:215,275,019A/Cuncertain significance
rs13093971222:215,275,039A/Cuncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.