SLC7A9

solute carrier family 7 member 9

Summary

This gene encodes a protein that belongs to a family of light subunits of amino acid transporters. This protein plays a role in the high-affinity and sodium-independent transport of cystine and neutral and dibasic amino acids, and appears to function in the reabsorption of cystine in the kidney tubule. Mutations in this gene cause non-type I cystinuria, a disease that leads to cystine stones in the urinary system due to impaired transport of cystine and dibasic amino acids. Alternate transcript variants, which encode the same protein, have been found for this gene. [provided by RefSeq, Jul 2011]

Known Variants249 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs537630298	19:33,321,444	G/A	—	uncertain significance
rs2287884	19:33,321,447	A/G	—	benign
rs886054327	19:33,321,449	A/G	—	uncertain significance
rs773144504	19:33,321,506	G/A	—	uncertain significance
rs200347500	19:33,321,517	C/T	—	benign
rs145079057	19:33,321,518	G/A	—	uncertain significance
rs144616352	19:33,321,544	C/T	—	conflicting classifications of pathogenicity
rs146815072	19:33,321,545	G/A	—	pathogenic
rs140516386	19:33,321,546	G/A	—	likely benign
rs141142633	19:33,321,586	C/T	—	conflicting classifications of pathogenicity
rs80283711	19:33,321,587	G/A	—	likely benign
rs2513534240	19:33,321,588	G/A	—	uncertain significance
rs2145788754	19:33,321,592	T/C	—	pathogenic
rs3214460	19:33,321,717	A/G	—	benign
rs17272190	19:33,321,775	C/G	—	benign
rs150281357	19:33,323,980	G/T	—	benign
rs1599648136	19:33,324,050	C/G	—	likely pathogenic
rs201241670	19:33,324,055	T/C	—	uncertain significance
rs1967855547	19:33,324,057	G/T	—	pathogenic
rs1237836237	19:33,324,066	T/C	—	uncertain significance
rs138086959	19:33,324,085	A/G	—	uncertain significance
rs34347941	19:33,324,089	A/G	—	likely benign
rs2513539035	19:33,324,092	A/C	—	uncertain significance
rs1007096305	19:33,324,101	G/T	—	pathogenic
rs199552160	19:33,324,116	G/A	—	conflicting classifications of pathogenicity
rs780106685	19:33,324,125	A/G	—	likely benign
rs2513539147	19:33,324,131	C/T	—	likely benign
rs988712826	19:33,324,148	C/A	—	likely pathogenic
rs753324280	19:33,324,150	C/T	—	pathogenic
rs747049300	19:33,324,157	G/A	—	uncertain significance
rs2513539265	19:33,324,160	T/G	—	uncertain significance
rs1599648331	19:33,324,161	G/T	—	uncertain significance
rs771287087	19:33,324,164	G/A	—	likely benign
rs760033221	19:33,324,178	G/A	—	uncertain significance
rs913172054	19:33,324,187	A/G	—	uncertain significance
rs536084711	19:33,324,212	G/T	—	uncertain significance
rs926998425	19:33,324,234	A/G	—	likely benign
rs374629909	19:33,324,237	C/T	—	conflicting classifications of pathogenicity
rs57590551	19:33,324,275	T/C	—	benign
rs79180036	19:33,327,881	C/A	downstream gene variant	—
rs9304838	19:33,332,828	G/C	—	benign
rs2287882	19:33,332,952	T/C	—	benign
rs766981518	19:33,333,088	C/A	—	likely pathogenic
rs2145809294	19:33,333,094	C/T	—	uncertain significance
rs760264924	19:33,333,097	T/A	—	pathogenic
rs202069562	19:33,333,099	C/T	—	uncertain significance
rs557019592	19:33,333,116	G/A	—	likely benign
rs368549032	19:33,333,131	C/T	—	likely benign
rs756323038	19:33,333,132	G/A	—	conflicting classifications of pathogenicity
rs147267783	19:33,333,137	G/A	—	conflicting classifications of pathogenicity
rs2513556856	19:33,333,150	C/A	—	uncertain significance
rs2287881	19:33,333,155	A/G	—	benign
rs2513556903	19:33,333,159	A/G	—	uncertain significance
rs142270619	19:33,333,161	G/C	—	likely pathogenic
rs111630604	19:33,333,179	C/T	—	likely benign
rs749278890	19:33,333,222	C/A	—	uncertain significance
rs765096409	19:33,333,242	G/T	—	likely benign
rs7247037	19:33,334,693	G/A	—	benign
rs199989326	19:33,334,746	G/A	—	likely benign
rs367844535	19:33,334,747	G/T	—	conflicting classifications of pathogenicity
rs1159806875	19:33,334,756	C/G	—	uncertain significance
rs939028046	19:33,334,775	C/T	—	conflicting classifications of pathogenicity
rs139388814	19:33,334,776	G/A	—	conflicting classifications of pathogenicity
rs772826926	19:33,334,792	C/A	—	uncertain significance
rs121908484	19:33,334,838	G/A	missense variant	pathogenic
rs762899514	19:33,334,842	C/T	—	likely benign
rs768466784	19:33,334,843	G/A	—	uncertain significance
rs201618022	19:33,334,847	C/T	—	uncertain significance
rs369810846	19:33,334,848	G/A	—	likely benign
rs113261426	19:33,334,869	C/T	—	likely benign
rs45628833	19:33,334,874	C/T	—	conflicting classifications of pathogenicity
rs200323617	19:33,334,875	G/A	—	likely benign
rs376490172	19:33,334,883	G/A	—	likely benign
rs1559225	19:33,334,978	A/G	—	benign
rs17238865	19:33,349,179	G/A	—	benign
rs2287880	19:33,349,295	C/T	—	benign
rs376464833	19:33,349,329	C/T	—	likely benign
rs779732979	19:33,349,337	G/A	—	likely benign
rs61730903	19:33,349,351	C/T	—	conflicting classifications of pathogenicity
rs1968692991	19:33,349,355	G/A	—	uncertain significance
rs1968693380	19:33,349,368	C/T	—	pathogenic
rs771756029	19:33,349,380	C/T	—	uncertain significance
rs150439306	19:33,349,381	G/A	—	likely benign
rs770811201	19:33,349,401	A/G	—	uncertain significance
rs1470791128	19:33,349,413	T/G	—	uncertain significance
rs375820400	19:33,349,437	G/A	—	uncertain significance
rs1968696030	19:33,349,445	A/G	—	uncertain significance
rs369923725	19:33,349,463	C/T	—	likely benign
rs753399795	19:33,349,464	G/C	—	likely benign
rs2287879	19:33,349,488	C/T	—	benign
rs11666241	19:33,349,676	T/A	—	benign
rs111516448	19:33,349,715	A/C	—	benign
rs76316637	19:33,349,751	A/G	—	benign
rs62124985	19:33,349,764	G/A	—	benign
rs2868194	19:33,350,060	T/C	downstream gene variant	—
rs371706017	19:33,350,747	C/T	—	uncertain significance
rs781259784	19:33,350,756	C/T	—	likely benign
rs755135545	19:33,350,763	G/A	—	conflicting classifications of pathogenicity
rs373579480	19:33,350,776	C/T	—	uncertain significance
rs1279911121	19:33,350,777	G/A	—	likely benign

Showing 100 of 249 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.