SLC38A8

solute carrier family 38 member 8

Summary

This gene encodes a putative sodium-dependent amino-acid/proton antiporter. The protein has eleven transmembrane domains, an extracellular N-terminus and an intracellular C-terminal tail. The protein is a member of the SLC38 sodium-coupled neutral amino acid transporter family of proteins. Mutations in this gene result in foveal hypoplasia with or without optic nerve misrouting and/or anterior segment dysgenesis. [provided by RefSeq, May 2014]

Known Variants490 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs6563992	16:84,043,129	C/T	—	benign
rs7196330	16:84,043,380	A/G	—	benign
rs111765632	16:84,043,392	G/C	—	benign
rs201257386	16:84,043,404	G/A	—	likely benign
rs144862027	16:84,043,406	C/T	—	likely benign
rs372266076	16:84,043,407	C/T	—	likely benign
rs202082621	16:84,043,408	G/A	—	uncertain significance
rs140069328	16:84,043,413	C/G	—	likely benign
rs750127529	16:84,043,416	C/T	—	likely benign
rs114304006	16:84,043,417	G/A	—	benign
rs778602390	16:84,043,419	G/A	—	likely benign
rs747810801	16:84,043,420	C/G	—	uncertain significance
rs1409654150	16:84,043,421	T/C	—	uncertain significance
rs770237010	16:84,043,437	G/C	—	likely benign
rs2084934040	16:84,043,441	C/A	—	uncertain significance
rs550814714	16:84,043,443	G/A	—	likely benign
rs767859391	16:84,043,446	C/T	—	likely benign
rs148450852	16:84,043,448	G/A	—	likely benign
rs2084934173	16:84,043,449	C/T	—	likely benign
rs1257010761	16:84,043,454	A/C	—	uncertain significance
rs373989279	16:84,043,455	G/C	—	likely benign
rs587777256	16:84,043,463	C/T	missense variant	pathogenic
rs747695344	16:84,043,475	G/A	—	likely benign
rs1370330177	16:84,043,479	G/A	—	likely benign
rs1242219395	16:84,043,490	G/A	—	likely benign
rs1353034146	16:84,043,492	G/A	—	likely benign
rs775955851	16:84,043,495	T/C	—	likely benign
rs2507601446	16:84,043,497	A/T	—	likely benign
rs2084934680	16:84,043,498	A/G	—	likely benign
rs1238632207	16:84,043,499	C/A	—	likely benign
rs11864124	16:84,046,402	G/C	—	benign
rs11149615	16:84,046,412	T/C	—	benign
rs11864037	16:84,046,432	A/G	—	benign
rs11864162	16:84,046,490	G/A	—	benign
rs11864095	16:84,046,499	C/T	—	benign
rs750804604	16:84,046,590	T/C	—	likely benign
rs1403394056	16:84,046,594	A/G	—	likely benign
rs756407374	16:84,046,595	G/A	—	likely benign
rs1307436372	16:84,046,596	G/C	—	likely benign
rs199825635	16:84,046,597	G/T	—	likely benign
rs2084972069	16:84,046,604	A/C	—	uncertain significance
rs747096444	16:84,046,605	C/A	—	uncertain significance
rs2507608072	16:84,046,608	G/C	—	likely benign
rs201194139	16:84,046,615	G/A	—	uncertain significance
rs775276596	16:84,046,616	G/A	—	uncertain significance
rs147305708	16:84,046,626	C/T	—	likely benign
rs765695393	16:84,046,629	G/A	—	likely benign
rs142352848	16:84,046,637	T/C	—	likely benign
rs910089872	16:84,046,638	T/A	—	likely benign
rs746158836	16:84,046,639	G/A	—	uncertain significance
rs1357746626	16:84,046,644	G/A	—	likely benign
rs1424477090	16:84,046,650	G/A	—	likely benign
rs903298698	16:84,046,659	T/A	—	likely pathogenic
rs879227849	16:84,046,662	A/G	—	likely benign
rs767108917	16:84,046,666	A/T	—	likely benign
rs79490100	16:84,046,668	G/A	—	likely benign
rs376582553	16:84,046,669	A/G	—	likely benign
rs753059428	16:84,046,670	C/G	—	likely benign
rs367869251	16:84,046,672	G/A	—	likely benign
rs372130068	16:84,046,673	G/A	—	likely benign
rs377031283	16:84,046,674	G/C	—	likely benign
rs2507608322	16:84,046,676	C/A	—	likely benign
rs781399880	16:84,046,677	A/G	—	likely benign
rs11864146	16:84,046,715	A/G	intron variant	—
rs9927180	16:84,049,862	G/A	—	benign
rs9938112	16:84,049,909	T/G	—	benign
rs1469292869	16:84,050,108	A/T	—	likely benign
rs146110824	16:84,050,111	G/A	—	likely benign
rs776408814	16:84,050,112	C/A	—	likely benign
rs2507615976	16:84,050,114	G/C	—	likely benign
rs372917153	16:84,050,116	G/A	—	likely benign
rs1157674969	16:84,050,117	G/T	—	likely benign
rs1365105382	16:84,050,128	G/A	—	likely benign
rs2085027430	16:84,050,131	G/T	—	likely benign
rs376183533	16:84,050,134	G/A	—	likely benign
rs1001747778	16:84,050,143	G/A	—	likely benign
rs766507237	16:84,050,146	G/A	—	likely benign
rs1453056215	16:84,050,155	G/T	—	likely benign
rs777742885	16:84,050,156	C/A	—	uncertain significance
rs746975408	16:84,050,158	T/C	—	likely benign
rs774038975	16:84,050,160	C/T	—	uncertain significance
rs756822665	16:84,050,161	G/A	—	likely benign
rs151235264	16:84,050,167	G/A	—	likely benign
rs769522763	16:84,050,170	G/A	—	likely benign
rs369678357	16:84,050,172	C/T	—	likely benign
rs113073498	16:84,050,173	G/A	—	benign
rs1400195404	16:84,050,176	C/T	—	likely benign
rs61742702	16:84,050,179	G/C	—	uncertain significance
rs1567691307	16:84,050,197	C/T	—	likely benign
rs758227587	16:84,050,199	G/A	—	likely benign
rs373825801	16:84,050,200	C/T	—	likely benign
rs138951168	16:84,050,201	G/A	—	likely benign
rs77876966	16:84,050,209	A/G	—	likely benign
rs143797848	16:84,050,212	C/A	—	likely benign
rs777086258	16:84,050,215	C/G	—	likely benign
rs13334006	16:84,050,218	G/A	—	benign
rs775786911	16:84,050,219	G/T	—	likely benign
rs1159473380	16:84,050,227	C/T	—	likely benign
rs764364848	16:84,050,229	G/A	—	likely benign
rs751448566	16:84,050,233	G/A	—	likely benign

Showing 100 of 490 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.