SLC6A18

solute carrier family 6 member 18

Summary

The SLC6 family of proteins, which includes SLC6A18, act as specific transporters for neurotransmitters, amino acids, and osmolytes like betaine, taurine, and creatine. SLC6 proteins are sodium cotransporters that derive the energy for solute transport from the electrochemical gradient for sodium ions (Hoglund et al., 2005 [PubMed 16125675]).[supplied by OMIM, Apr 2010]

Known Variants91 total

rsidPosition (GRCh37)AllelesClassClinVar
rs24779778455:1,225,624C/T—likely benign
rs2019334635:1,225,647C/T—uncertain significance
rs1497535645:1,225,719C/T—uncertain significance
rs24779783845:1,225,734T/C—uncertain significance
rs1446068095:1,227,279C/G——
rs49756255:1,228,215G/Aregulatory region variant—
rs125227965:1,229,167C/Tdownstream gene variant—
rs7474031935:1,232,354G/A—uncertain significance
rs7673717835:1,232,372G/A—uncertain significance
rs1442082115:1,232,393G/A—likely benign
rs1405925345:1,232,420C/T—uncertain significance
rs2021795925:1,232,438G/A—uncertain significance
rs24779962175:1,232,444A/T—uncertain significance
rs100557425:1,232,445C/T—benign
rs49756235:1,232,491G/Tintron variant—
rs1380038305:1,232,866G/C—uncertain significance
rs7471960675:1,232,902T/A—uncertain significance
rs7656757885:1,232,988G/A—uncertain significance
rs12545048345:1,235,596G/A—uncertain significance
rs749192745:1,235,627C/T—benign
rs1507874535:1,235,628G/A—uncertain significance
rs3728335215:1,235,646C/T—uncertain significance
rs1394148505:1,235,661A/T—uncertain significance
rs7749187805:1,235,691A/G—likely benign
rs1498052015:1,235,736G/A—uncertain significance
rs768274005:1,235,744G/A—likely benign
rs5314990345:1,236,876C/G——
rs1118426365:1,238,115C/T—benign
rs1426653865:1,239,586C/T—uncertain significance
rs7714385185:1,239,587G/A—likely benign
rs7790065605:1,239,601G/A—uncertain significance
rs10265674795:1,239,608C/A—uncertain significance
rs759583935:1,239,657T/C—benign
rs7565623915:1,239,662G/A—uncertain significance
rs1154314615:1,239,671C/T—likely benign
rs783685895:1,240,204C/G——
rs3682517625:1,240,666C/T—uncertain significance
rs7621793665:1,240,677G/A—uncertain significance
rs7666272475:1,240,707G/A—uncertain significance
rs7518312375:1,240,708C/T—uncertain significance
rs789916725:1,240,749A/G—benign
rs74478155:1,240,757C/Tsynonymous variant—
rs777765985:1,240,998T/Cintron variant—
rs9743248125:1,242,840C/G—uncertain significance
rs7714937675:1,242,877G/A—uncertain significance
rs1456192305:1,242,879C/T—benign
rs7546151725:1,242,908A/G—uncertain significance
rs5638733445:1,242,910G/A—uncertain significance
rs7725033475:1,242,943C/G—uncertain significance
rs3744795065:1,242,967T/C—uncertain significance
rs1112364605:1,243,666G/A—benign
rs1479611815:1,243,707C/T—uncertain significance
rs1167619745:1,243,716A/T—benign
rs24780315025:1,243,722A/G—uncertain significance
rs1482200075:1,243,727C/A—uncertain significance
rs1149529305:1,243,748A/G—benign
rs1425818045:1,243,765G/A—uncertain significance
rs3773257295:1,243,796G/A—uncertain significance
rs12335707135:1,243,800C/A—likely benign
rs2015123025:1,243,802G/A—likely benign
rs11921814105:1,243,811G/A—likely benign
rs5556582615:1,243,820C/A—uncertain significance
rs1493919395:1,243,831C/T—benign
rs754343445:1,243,850T/A—benign
rs3776152525:1,243,866C/A—uncertain significance
rs1493378775:1,243,873T/C—likely benign
rs14750757875:1,244,375G/A—likely benign
rs2009648995:1,244,394C/A—uncertain significance
rs3772101305:1,244,411T/A—uncertain significance
rs1408858035:1,244,479G/A—uncertain significance
rs5618933135:1,244,487C/T—uncertain significance
rs5298146035:1,244,662G/A——
rs1448358645:1,244,728G/A—uncertain significance
rs1479450405:1,244,729C/T—likely benign
rs7654971455:1,244,751G/A—uncertain significance
rs9096214505:1,244,769T/C—uncertain significance
rs7458688215:1,244,797G/A—uncertain significance
rs7681806545:1,245,973C/T—uncertain significance
rs7806127565:1,245,984G/A—uncertain significance
rs7477831535:1,245,987A/C—uncertain significance
rs7694657345:1,245,993T/C—uncertain significance
rs754990325:1,245,997C/A—benign
rs7655627865:1,246,039C/T—uncertain significance
rs5662772545:1,246,081C/A—uncertain significance
rs1143315425:1,246,104G/C—benign
rs3699958115:1,246,110G/A—uncertain significance
rs14196354945:1,246,126C/T—uncertain significance
rs24780401145:1,246,129A/G—uncertain significance
rs24780404335:1,246,170C/A—uncertain significance
rs5428006815:1,246,185A/T—uncertain significance
rs7632229665:1,246,189G/A—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.