STX16

syntaxin 16

Summary

This gene encodes a protein that is a member of the syntaxin or t-SNARE (target-SNAP receptor) family. These proteins are found on cell membranes and serve as the targets for V-SNARES (vesicle-SNAP receptors) permitting specific synaptic vesicle docking and fusion. A microdeletion in the region of chromosome 20 where this gene is located has been associated with pseudohypoparathyroidism type Ib. Multiple transcript variants have been found for this gene. Read-through transcription also exists between this gene and the neighboring downstream aminopeptidase-like 1 (NPEPL1) gene. [provided by RefSeq, Mar 2011]

Known Variants178 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs6026426	20:57,226,079	C/G	—	benign
rs78496733	20:57,226,243	G/C	—	benign
rs6026428	20:57,226,319	T/C	—	benign
rs886056841	20:57,226,356	G/A	—	uncertain significance
rs149351460	20:57,226,370	G/A	—	uncertain significance
rs886056842	20:57,226,390	C/G	—	uncertain significance
rs567647430	20:57,226,442	G/A	—	uncertain significance
rs148071494	20:57,226,513	G/A	—	benign
rs190719996	20:57,226,529	C/G	—	benign
rs1018502247	20:57,226,569	G/A	—	uncertain significance
rs886056843	20:57,226,598	T/G	—	uncertain significance
rs41296203	20:57,226,599	G/A	—	benign
rs557592494	20:57,226,642	C/G	—	benign
rs886056844	20:57,226,654	G/A	—	uncertain significance
rs886056845	20:57,226,686	G/A	—	uncertain significance
rs141733765	20:57,226,708	C/T	—	benign
rs41296205	20:57,226,713	A/C	—	benign
rs368572667	20:57,226,903	G/A	—	benign
rs181473720	20:57,227,000	T/C	—	benign
rs368579447	20:57,227,038	A/C	—	benign
rs969365159	20:57,227,106	A/G	—	uncertain significance
rs777100169	20:57,227,161	C/T	—	likely benign
rs142560013	20:57,227,168	C/T	—	uncertain significance
rs757042617	20:57,227,208	C/A	—	likely benign
rs139859128	20:57,227,209	G/A	—	benign
rs16982214	20:57,234,482	A/G	—	benign
rs2083653106	20:57,234,661	G/A	—	likely benign
rs73598392	20:57,234,687	C/T	—	likely benign
rs202148717	20:57,234,706	T/C	—	benign
rs1372240951	20:57,242,550	C/T	—	uncertain significance
rs765221511	20:57,242,558	C/T	—	uncertain significance
rs376636519	20:57,242,602	G/A	—	likely benign
rs115046538	20:57,242,618	C/T	—	conflicting classifications of pathogenicity
rs749701121	20:57,242,619	G/A	—	uncertain significance
rs754389009	20:57,243,032	C/T	—	likely benign
rs921011114	20:57,243,050	A/G	—	uncertain significance
rs776528227	20:57,243,093	C/T	—	likely benign
rs759176630	20:57,243,105	G/A	—	uncertain significance
rs148962992	20:57,243,150	T/C	—	likely benign
rs756787371	20:57,243,173	A/C	—	uncertain significance
rs73302103	20:57,243,339	C/T	—	benign
rs16982232	20:57,243,408	C/T	—	benign
rs1886843	20:57,244,201	A/G	—	benign
rs1410652784	20:57,244,328	C/T	—	likely benign
rs1293901950	20:57,244,335	T/C	—	likely benign
rs533111939	20:57,244,340	C/T	—	benign
rs752907104	20:57,244,368	G/A	—	uncertain significance
rs200994851	20:57,244,370	C/T	—	benign
rs960434917	20:57,244,371	G/A	—	uncertain significance
rs772174293	20:57,244,375	A/G	—	uncertain significance
rs768436138	20:57,244,385	G/A	—	likely benign
rs141068956	20:57,244,395	C/T	—	likely benign
rs41276950	20:57,244,396	A/G	—	benign
rs1339839746	20:57,244,403	C/T	—	likely benign
rs2083914779	20:57,244,404	T/C	—	uncertain significance
rs759831553	20:57,244,407	G/A	—	benign
rs138647604	20:57,244,409	G/T	—	conflicting classifications of pathogenicity
rs200474760	20:57,244,428	G/A	—	conflicting classifications of pathogenicity
rs1601034728	20:57,244,433	C/T	—	likely benign
rs116490884	20:57,244,437	G/T	—	uncertain significance
rs368945834	20:57,244,438	T/A	—	uncertain significance
rs1187531675	20:57,244,487	C/T	—	likely benign
rs765364172	20:57,244,488	G/A	—	uncertain significance
rs2296524	20:57,244,493	A/G	—	benign
rs372211731	20:57,244,499	C/A	—	likely benign
rs185079495	20:57,244,520	C/T	—	likely benign
rs4810142	20:57,245,425	G/A	—	benign
rs41276952	20:57,245,561	G/C	—	likely benign
rs2516022199	20:57,245,568	G/T	—	uncertain significance
rs114786310	20:57,245,580	G/A	—	benign
rs147137636	20:57,245,596	G/A	—	likely benign
rs756954719	20:57,245,604	T/C	—	uncertain significance
rs146333716	20:57,245,605	C/T	—	likely benign
rs777183501	20:57,245,647	T/C	—	likely benign
rs185111037	20:57,245,655	A/T	—	conflicting classifications of pathogenicity
rs370006614	20:57,245,663	C/T	—	uncertain significance
rs543252839	20:57,245,669	C/T	—	likely benign
rs967478	20:57,245,894	G/C	—	benign
rs781763936	20:57,246,222	G/A	—	uncertain significance
rs1422363721	20:57,246,227	G/A	—	likely benign
rs188308261	20:57,246,267	C/T	—	conflicting classifications of pathogenicity
rs115536505	20:57,246,268	G/A	—	uncertain significance
rs202102691	20:57,246,277	A/G	—	conflicting classifications of pathogenicity
rs754524705	20:57,246,312	A/C	—	conflicting classifications of pathogenicity
rs535191941	20:57,246,324	A/G	—	uncertain significance
rs371863588	20:57,246,337	C/T	—	uncertain significance
rs1031420787	20:57,246,342	A/C	—	uncertain significance
rs151312981	20:57,246,343	T/C	—	uncertain significance
rs776576965	20:57,246,367	C/A	—	likely benign
rs34865822	20:57,246,484	G/A	—	benign
rs1415958267	20:57,246,494	G/A	—	benign
rs141634753	20:57,246,528	G/A	—	benign
rs749300349	20:57,248,717	G/A	—	uncertain significance
rs368191193	20:57,248,728	C/G	—	benign
rs6123819	20:57,250,986	C/G	—	benign
rs2084118222	20:57,251,244	C/T	—	uncertain significance
rs886056846	20:57,251,273	A/G	—	uncertain significance
rs886056847	20:57,251,276	C/G	—	uncertain significance
rs886056848	20:57,251,281	G/C	—	uncertain significance
rs775032938	20:57,251,327	G/A	—	uncertain significance

Showing 100 of 178 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.