NOS1

nitric oxide synthase 1

Summary

The protein encoded by this gene belongs to the family of nitric oxide synthases, which synthesize nitric oxide from L-arginine. Nitric oxide is a reactive free radical, which acts as a biologic mediator in several processes, including neurotransmission, and antimicrobial and antitumoral activities. In the brain and peripheral nervous system, nitric oxide displays many properties of a neurotransmitter, and has been implicated in neurotoxicity associated with stroke and neurodegenerative diseases, neural regulation of smooth muscle, including peristalsis, and penile erection. This protein is ubiquitously expressed, with high level of expression in skeletal muscle. Multiple transcript variants that differ in the 5' UTR have been described for this gene but the full-length nature of these transcripts is not known. Additionally, alternatively spliced transcript variants encoding different isoforms (some testis-specific) have been found for this gene.[provided by RefSeq, Feb 2011]

Known Variants161 total

rsidPosition (GRCh37)AllelesClassClinVar
rs268282612:117,652,838G/Aregulatory region variant—
rs965855712:117,653,106G/A—benign
rs77316453612:117,653,128C/T—uncertain significance
rs36927735612:117,655,853A/G—likely benign
rs20147635612:117,655,876C/G—conflicting classifications of pathogenicity
rs144862774512:117,655,878A/G—uncertain significance
rs115775365412:117,655,906G/A—uncertain significance
rs75758044312:117,657,903C/T—uncertain significance
rs76192581512:117,657,972C/A—uncertain significance
rs229304412:117,657,991G/T—benign
rs7442711712:117,657,993C/T—uncertain significance
rs965853312:117,658,003G/T—likely benign
rs7610478512:117,658,032C/T—uncertain significance
rs37137312712:117,658,039C/T—likely benign
rs249993182412:117,660,587T/C—uncertain significance
rs159292514512:117,660,601C/T—likely benign
rs37291967812:117,660,637G/A—likely benign
rs227198512:117,660,827C/T——
rs249993642712:117,662,878C/T—uncertain significance
rs78144611412:117,664,514G/A—likely benign
rs37428035012:117,664,516C/T—uncertain significance
rs76680047412:117,664,555G/A—uncertain significance
rs75366627412:117,665,238C/T—uncertain significance
rs57173746612:117,665,244C/T—likely benign
rs106049953012:117,665,246G/C—uncertain significance
rs3437518212:117,665,330T/C—benign
rs20220707712:117,665,375T/C—likely benign
rs965850012:117,665,399G/A—benign
rs74768167112:117,665,432G/A—likely benign
rs7792774912:117,669,842C/T—likely benign
rs56279427612:117,669,843G/A—uncertain significance
rs11649858612:117,669,866G/A—likely benign
rs76300015512:117,669,913C/T—uncertain significance
rs374147512:117,669,914G/A—benign
rs965849012:117,670,298C/Gintron variant—
rs54141768512:117,672,380G/A—likely benign
rs75798606412:117,672,423G/A—uncertain significance
rs19229786812:117,672,428C/T—benign
rs74533410712:117,672,441C/T—uncertain significance
rs4141374712:117,672,446G/A—likely benign
rs1337786012:117,672,539G/C—benign
rs37506985112:117,672,544G/A—uncertain significance
rs77524789912:117,672,547C/T—uncertain significance
rs37007627012:117,672,557T/G—likely benign
rs965848112:117,672,569G/A—benign
rs74812881912:117,680,501T/C—likely benign
rs187034555612:117,681,201T/C—uncertain significance
rs142206247312:117,681,208A/G—likely benign
rs4141024712:117,685,255G/A—benign
rs104773512:117,685,270G/A—benign
rs75213378312:117,685,315A/G—likely benign
rs77953019012:117,685,336G/A—likely benign
rs14235466812:117,691,485A/G—benign
rs965844612:117,691,490G/A—benign
rs77076285212:117,691,495C/T—uncertain significance
rs965844512:117,691,500C/T—likely benign
rs20060463512:117,693,744T/C—uncertain significance
rs37380058812:117,693,777A/T—uncertain significance
rs14948402212:117,693,792T/C—benign
rs7821073512:117,693,815G/T—benign
rs1106842812:117,693,817G/A—benign
rs18451788312:117,693,837G/A—uncertain significance
rs56221973112:117,696,231C/T—likely benign
rs54460252212:117,696,254C/T—likely benign
rs75101434412:117,698,263C/G—likely benign
rs7956796712:117,698,324C/T—likely benign
rs76174507612:117,698,334G/A—uncertain significance
rs249999516212:117,698,359C/T—uncertain significance
rs268281912:117,700,047T/A——
rs229305412:117,701,714A/G—benign
rs77182489612:117,701,740C/T—uncertain significance
rs965840312:117,701,743T/C—benign
rs75537725812:117,701,762C/T—likely benign
rs76427757712:117,703,156G/A—uncertain significance
rs187230422312:117,703,193C/T—uncertain significance
rs98057763712:117,703,236C/T—uncertain significance
rs20009976512:117,705,840G/A—likely benign
rs75575452912:117,705,884C/G—likely benign
rs36804225212:117,705,912G/A—uncertain significance
rs78055815612:117,705,931T/C—uncertain significance
rs7948727912:117,705,934T/A—conflicting classifications of pathogenicity
rs649012112:117,708,195G/C——
rs2860701412:117,708,611C/Tintron variant—
rs37195919512:117,710,226G/A—likely benign
rs4135665212:117,710,246C/T—likely benign
rs19977230812:117,715,832G/A—likely benign
rs36989359812:117,715,856G/T—likely benign
rs13812794112:117,718,523C/T—likely benign
rs98302537012:117,718,540T/G—uncertain significance
rs965836212:117,718,593G/A—benign
rs20131606812:117,718,629G/A—benign
rs76767989212:117,718,638G/C—uncertain significance
rs116089620212:117,718,653G/A—likely benign
rs229305012:117,718,822C/G——
rs250004476612:117,723,089T/A—uncertain significance
rs20023185012:117,723,115G/T—uncertain significance
rs965835612:117,724,018T/G—likely benign
rs75878277912:117,724,027T/C—uncertain significance
rs7165361012:117,725,899T/C—likely benign
rs74599947312:117,725,945C/T—uncertain significance

Showing 100 of 161 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.