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

Gene information from NCBI Gene. Variant classifications from ClinVar.