SPAG17

sperm associated antigen 17

Summary

This gene encodes a central pair protein present in the axonemes of cells with a "9 + 2" organization of microtubules. The encoded protein is required for the proper function of the axoneme. Mutations in the orthologous gene in mice lead to primary ciliary dyskinesia characterized by immotile nasal and tracheal cilia, reduced clearance of nasal mucus, profound respiratory distress, hydrocephalus, and neonatal lethality within twelve hours of birth due to impaired airway mucociliary clearance. Single-nucleotide polymorphisms in this gene are associated with human height and targeted mutations lead to skeletal malformations affecting the limbs in mice, suggesting a role for this gene in skeletal development. [provided by RefSeq, Feb 2017]

Known Variants190 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2526002805	1:118,506,439	T/G	—	uncertain significance
rs112012491	1:118,506,441	C/T	—	likely benign
rs201492235	1:118,506,442	G/A	—	uncertain significance
rs1239249145	1:118,506,475	T/C	—	uncertain significance
rs1448318523	1:118,506,521	G/T	—	uncertain significance
rs2526048169	1:118,509,234	G/C	—	uncertain significance
rs3738422	1:118,509,278	G/A	—	benign
rs61729969	1:118,509,284	G/T	—	benign
rs758638121	1:118,509,292	T/C	—	uncertain significance
rs370607878	1:118,512,695	G/A	—	uncertain significance
rs142569000	1:118,514,522	A/G	—	uncertain significance
rs1241839810	1:118,514,655	C/T	—	uncertain significance
rs74114947	1:118,514,677	A/G	—	benign
rs61729968	1:118,516,082	A/T	—	benign
rs1654792233	1:118,516,095	G/A	—	uncertain significance
rs1216071718	1:118,516,151	G/A	—	uncertain significance
rs79780292	1:118,516,164	C/T	—	likely benign
rs761681865	1:118,516,179	C/G	—	uncertain significance
rs74114950	1:118,516,181	G/C	—	benign
rs560139811	1:118,521,535	A/G	—	—
rs2526266949	1:118,523,896	C/T	—	likely benign
rs764841044	1:118,523,984	A/C	—	uncertain significance
rs752212876	1:118,523,985	C/T	—	uncertain significance
rs749515774	1:118,524,030	A/G	—	likely benign
rs1412894027	1:118,526,451	G/A	—	uncertain significance
rs1440414707	1:118,526,460	A/G	—	uncertain significance
rs148831157	1:118,527,339	A/T	—	likely benign
rs1186334542	1:118,527,356	T/C	—	likely benign
rs112081865	1:118,527,358	C/T	—	likely benign
rs184368389	1:118,530,450	T/C	—	benign
rs575313276	1:118,530,451	A/C	—	likely benign
rs115088568	1:118,530,471	C/T	—	likely benign
rs781066299	1:118,530,484	C/T	—	likely benign
rs200338065	1:118,530,500	T/G	—	uncertain significance
rs766479861	1:118,530,718	A/G	—	likely benign
rs1656649914	1:118,530,782	G/A	—	uncertain significance
rs201394490	1:118,530,785	G/A	—	uncertain significance
rs12040811	1:118,530,796	C/T	—	benign
rs376841705	1:118,530,819	G/A	—	likely benign
rs2526411652	1:118,533,507	G/C	—	uncertain significance
rs781563447	1:118,534,057	T/A	—	uncertain significance
rs773018272	1:118,534,127	T/C	—	uncertain significance
rs2526439919	1:118,535,105	A/T	—	uncertain significance
rs764659718	1:118,535,118	C/A	—	uncertain significance
rs2526441371	1:118,535,147	A/C	—	uncertain significance
rs35290515	1:118,535,211	C/T	—	benign
rs139077911	1:118,535,216	T/G	—	uncertain significance
rs748999990	1:118,537,063	C/T	—	likely benign
rs754534447	1:118,537,064	G/A	—	uncertain significance
rs747622919	1:118,537,073	G/C	—	uncertain significance
rs12031260	1:118,537,074	A/G	—	benign
rs761981749	1:118,537,129	C/T	—	uncertain significance
rs367692897	1:118,539,045	T/G	—	likely benign
rs773376787	1:118,539,063	T/G	—	uncertain significance
rs2526505648	1:118,539,070	T/C	—	uncertain significance
rs138035488	1:118,539,079	C/T	—	likely benign
rs370473712	1:118,539,100	C/A	—	uncertain significance
rs759404757	1:118,539,104	C/T	—	uncertain significance
rs1235277388	1:118,539,105	A/G	—	likely benign
rs555825023	1:118,539,116	C/T	—	uncertain significance
rs574076468	1:118,539,123	C/T	—	likely benign
rs143296652	1:118,539,211	A/G	—	benign
rs2526511734	1:118,539,356	T/A	—	uncertain significance
rs75886122	1:118,548,044	G/T	—	likely benign
rs148119196	1:118,548,146	A/G	—	uncertain significance
rs200816489	1:118,548,186	C/A	—	uncertain significance
rs1040405162	1:118,550,696	T/C	—	uncertain significance
rs2101752600	1:118,550,698	G/A	—	uncertain significance
rs1659090730	1:118,550,735	C/A	—	uncertain significance
rs370369450	1:118,550,764	C/A	—	uncertain significance
rs373003029	1:118,550,779	C/T	—	uncertain significance
rs587783068	1:118,550,809	C/A	—	uncertain significance
rs750287538	1:118,554,898	T/C	—	uncertain significance
rs1243862715	1:118,554,935	C/G	—	uncertain significance
rs752115449	1:118,554,940	C/T	—	pathogenic
rs147036997	1:118,558,613	T/C	—	uncertain significance
rs777752918	1:118,558,665	C/T	—	uncertain significance
rs146386019	1:118,558,666	G/A	—	likely benign
rs778042308	1:118,558,792	T/G	—	uncertain significance
rs1557910560	1:118,558,799	C/G	—	uncertain significance
rs536885434	1:118,558,805	C/T	—	uncertain significance
rs10923472	1:118,565,953	G/A	—	benign
rs778797363	1:118,565,956	A/G	—	uncertain significance
rs188415695	1:118,566,027	A/T	—	likely benign
rs762156442	1:118,567,880	A/T	—	uncertain significance
rs2524504378	1:118,567,893	C/T	—	uncertain significance
rs755032473	1:118,567,934	G/A	—	likely benign
rs756839531	1:118,567,949	G/A	—	uncertain significance
rs201590356	1:118,567,982	G/T	—	uncertain significance
rs759699821	1:118,568,006	T/G	—	uncertain significance
rs200174498	1:118,568,010	A/T	—	uncertain significance
rs746141451	1:118,570,914	A/G	—	uncertain significance
rs2101866907	1:118,570,932	C/G	—	uncertain significance
rs2524537495	1:118,570,993	C/T	—	uncertain significance
rs1371806795	1:118,574,374	T/G	—	uncertain significance
rs1441857807	1:118,574,384	T/C	—	likely benign
rs536383245	1:118,574,410	C/T	—	likely benign
rs762540191	1:118,574,416	C/T	—	uncertain significance
rs761217582	1:118,574,424	G/A	—	uncertain significance
rs139045272	1:118,574,432	T/C	—	benign

Showing 100 of 190 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.