SYNJ2

synaptojanin 2

Summary

The gene is a member of the inositol-polyphosphate 5-phosphatase family. The encoded protein interacts with the ras-related C3 botulinum toxin substrate 1, which causes translocation of the encoded protein to the plasma membrane where it inhibits clathrin-mediated endocytosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

Known Variants122 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs748314269	6:158,403,003	A/G	—	uncertain significance
rs1449894549	6:158,403,115	C/T	—	uncertain significance
rs9456946	6:158,413,426	C/G	—	—
rs9365682	6:158,414,308	C/T	regulatory region variant	—
rs9365723	6:158,435,572	A/C	—	—
rs143362296	6:158,438,287	C/T	—	uncertain significance
rs368702906	6:158,438,289	T/A	—	uncertain significance
rs747222262	6:158,438,295	T/A	—	uncertain significance
rs146500677	6:158,449,841	A/G	—	uncertain significance
rs200841167	6:158,450,007	G/A	—	uncertain significance
rs769705005	6:158,454,503	G/T	—	uncertain significance
rs2482877098	6:158,454,531	G/C	—	uncertain significance
rs761898982	6:158,454,533	T/C	—	uncertain significance
rs1779479952	6:158,454,536	G/A	—	uncertain significance
rs376191774	6:158,454,560	G/A	—	uncertain significance
rs146752926	6:158,454,624	G/A	—	uncertain significance
rs140274772	6:158,454,639	G/A	—	uncertain significance
rs142082418	6:158,464,399	G/A	—	uncertain significance
rs2986010	6:158,473,002	G/A	—	—
rs901532450	6:158,480,314	T/C	—	uncertain significance
rs1415332791	6:158,480,322	G/T	—	uncertain significance
rs1781058166	6:158,480,326	G/A	—	uncertain significance
rs149724554	6:158,480,332	G/A	—	uncertain significance
rs1316305697	6:158,480,336	A/G	—	uncertain significance
rs1282874581	6:158,480,356	G/A	—	uncertain significance
rs1562366485	6:158,480,380	T/G	—	uncertain significance
rs768034618	6:158,483,048	G/A	—	uncertain significance
rs745741351	6:158,483,063	A/G	—	uncertain significance
rs980255176	6:158,483,159	T/G	—	uncertain significance
rs370643062	6:158,483,177	G/T	—	uncertain significance
rs371150490	6:158,483,195	C/T	—	uncertain significance
rs145258118	6:158,483,206	G/A	—	benign
rs138316440	6:158,484,843	G/A	—	uncertain significance
rs141160611	6:158,484,904	G/C	missense variant	—
rs1402616202	6:158,485,682	T/C	—	likely benign
rs771215497	6:158,485,859	T/C	—	uncertain significance
rs879457100	6:158,485,882	C/T	—	uncertain significance
rs199932988	6:158,485,883	G/C	—	uncertain significance
rs753556219	6:158,485,895	G/A	—	uncertain significance
rs772220600	6:158,485,967	A/G	—	uncertain significance
rs2483079828	6:158,486,011	A/G	—	uncertain significance
rs370812713	6:158,486,015	C/T	—	uncertain significance
rs151101142	6:158,487,542	G/A	—	uncertain significance
rs141050493	6:158,487,550	A/T	—	uncertain significance
rs768358154	6:158,487,581	A/C	—	uncertain significance
rs201993080	6:158,487,587	G/A	—	uncertain significance
rs892800200	6:158,487,630	C/T	—	likely benign
rs148023347	6:158,487,658	G/A	—	uncertain significance
rs760105348	6:158,487,670	G/A	—	likely benign
rs772360288	6:158,490,614	C/T	—	uncertain significance
rs201236063	6:158,490,615	G/A	—	uncertain significance
rs998281470	6:158,490,685	A/G	—	likely benign
rs901594228	6:158,492,650	A/T	—	uncertain significance
rs146694394	6:158,492,660	C/T	missense variant	—
rs764135611	6:158,492,668	G/A	—	uncertain significance
rs1034987223	6:158,492,750	T/G	—	uncertain significance
rs140731520	6:158,492,758	G/A	—	uncertain significance
rs779360490	6:158,492,780	G/C	—	uncertain significance
rs200810101	6:158,492,803	A/G	—	uncertain significance
rs922956765	6:158,492,809	A/C	—	uncertain significance
rs151046990	6:158,492,812	C/T	—	uncertain significance
rs866552975	6:158,495,631	A/G	—	uncertain significance
rs200377876	6:158,495,654	G/A	—	uncertain significance
rs2483221129	6:158,497,718	G/A	—	uncertain significance
rs768704530	6:158,497,751	C/T	—	uncertain significance
rs766909086	6:158,497,760	G/A	—	uncertain significance
rs749102058	6:158,497,812	C/T	—	uncertain significance
rs747301950	6:158,499,271	T/C	—	uncertain significance
rs770228724	6:158,499,285	C/T	—	uncertain significance
rs139533347	6:158,499,290	G/A	—	likely benign
rs869312665	6:158,499,303	T/C	—	uncertain significance
rs2483271791	6:158,502,166	G/A	—	uncertain significance
rs541233932	6:158,502,194	G/A	—	uncertain significance
rs774224719	6:158,502,214	G/C	—	uncertain significance
rs369503288	6:158,502,318	C/T	—	likely benign
rs1782663473	6:158,502,323	A/G	—	uncertain significance
rs575125867	6:158,502,490	C/T	—	uncertain significance
rs150369649	6:158,502,528	G/A	—	uncertain significance
rs368434138	6:158,504,519	G/A	—	likely benign
rs777010951	6:158,504,533	C/T	—	uncertain significance
rs756860929	6:158,504,542	G/T	—	uncertain significance
rs756032117	6:158,504,552	C/A	—	uncertain significance
rs143886244	6:158,504,557	G/C	—	uncertain significance
rs2483300546	6:158,504,603	T/G	—	uncertain significance
rs139862615	6:158,505,068	G/A	—	uncertain significance
rs1369076213	6:158,505,078	A/G	—	likely benign
rs772723028	6:158,505,083	C/T	—	uncertain significance
rs61743922	6:158,505,141	C/A	—	uncertain significance
rs567451101	6:158,507,891	C/G	—	uncertain significance
rs201667755	6:158,507,892	G/A	—	uncertain significance
rs754246337	6:158,507,907	C/T	—	uncertain significance
rs1241784831	6:158,507,984	T/A	—	likely benign
rs148053948	6:158,508,000	C/T	—	uncertain significance
rs541615722	6:158,508,012	C/G	—	uncertain significance
rs61748684	6:158,508,015	C/G	—	uncertain significance
rs1783238398	6:158,509,692	C/T	—	uncertain significance
rs138506800	6:158,509,703	G/A	—	uncertain significance
rs1014332934	6:158,510,916	A/G	—	uncertain significance
rs61756209	6:158,510,956	G/A	—	uncertain significance
rs148794986	6:158,510,970	G/A	—	uncertain significance

Showing 100 of 122 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.