SLC6A2

solute carrier family 6 member 2

Summary

This gene encodes a member of the sodium:neurotransmitter symporter family. This member is a multi-pass membrane protein, which is responsible for reuptake of norepinephrine into presynaptic nerve terminals and is a regulator of norepinephrine homeostasis. Mutations in this gene cause orthostatic intolerance, a syndrome characterized by lightheadedness, fatigue, altered mentation and syncope. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]

Known Variants97 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2397771	16:55,689,087	C/A	—	—
rs168924	16:55,689,544	A/G	upstream gene variant	—
rs2242446	16:55,690,425	C/T	regulatory region variant	—
rs748234681	16:55,690,617	C/A	—	uncertain significance
rs11568323	16:55,690,627	C/A	—	likely benign
rs1401120387	16:55,690,641	C/T	—	uncertain significance
rs1964462842	16:55,690,670	G/C	—	uncertain significance
rs1235830773	16:55,690,692	A/G	—	uncertain significance
rs2543689081	16:55,690,693	A/C	—	uncertain significance
rs375150129	16:55,690,717	G/A	—	likely benign
rs11568321	16:55,690,723	C/T	—	benign
rs376306835	16:55,690,724	A/T	—	uncertain significance
rs753908637	16:55,690,726	C/T	—	likely benign
rs12932949	16:55,694,910	G/C	—	benign
rs3785143	16:55,695,106	C/T	regulatory region variant	—
rs35569556	16:55,695,168	C/G	—	benign
rs36029	16:55,696,756	A/G	intron variant	—
rs1532701	16:55,698,027	G/A	regulatory region variant	—
rs192303	16:55,700,224	C/G	intron variant	—
rs734980	16:55,702,549	A/G	regulatory region variant	—
rs1805065	16:55,703,498	T/C	—	benign
rs187715	16:55,704,042	T/G	—	—
rs552629380	16:55,705,760	T/G	—	likely benign
rs2543730656	16:55,705,785	C/T	—	likely benign
rs201384450	16:55,705,821	C/T	—	likely benign
rs781042933	16:55,705,869	C/T	—	likely benign
rs1964937783	16:55,705,991	C/G	—	uncertain significance
rs1378367115	16:55,706,011	C/T	—	uncertain significance
rs146377944	16:55,706,025	C/T	—	likely benign
rs768999362	16:55,706,036	A/G	—	uncertain significance
rs773801761	16:55,706,067	G/A	—	likely benign
rs36020	16:55,713,088	C/T	intron variant	—
rs564420311	16:55,713,151	T/C	—	—
rs3785152	16:55,716,550	T/A	—	—
rs40147	16:55,716,840	G/A	intron variant	—
rs36017	16:55,718,818	G/C	intron variant	—
rs1965409054	16:55,719,060	G/T	—	uncertain significance
rs200894116	16:55,719,077	G/A	—	uncertain significance
rs374968647	16:55,719,081	G/A	—	uncertain significance
rs781578719	16:55,719,100	C/T	—	likely benign
rs1805066	16:55,719,143	G/A	—	benign
rs10521329	16:55,720,458	C/A	intron variant	—
rs3785155	16:55,722,390	G/A	intron variant	—
rs4436775	16:55,724,356	G/A	intron variant	—
rs4564560	16:55,724,764	A/G	intron variant	—
rs775606212	16:55,725,886	T/C	—	likely benign
rs369812990	16:55,725,889	C/T	—	likely benign
rs372107270	16:55,725,890	G/A	—	likely benign
rs45564432	16:55,725,894	C/G	—	benign
rs11568324	16:55,726,058	C/T	intron variant	—
rs1297916912	16:55,727,988	T/C	—	uncertain significance
rs200194488	16:55,728,030	G/C	—	uncertain significance
rs1861647	16:55,728,406	G/C	—	—
rs41516245	16:55,729,014	C/G	intron variant	—
rs7197234	16:55,729,190	G/A	—	benign
rs754577163	16:55,729,199	G/C	—	likely benign
rs1965763135	16:55,729,270	T/C	—	uncertain significance
rs141844145	16:55,729,318	G/A	—	likely benign
rs553428176	16:55,729,405	T/C	—	—
rs3785157	16:55,729,836	C/T	intron variant	—
rs5568	16:55,730,124	A/G	—	—
rs767373492	16:55,730,187	G/A	—	uncertain significance
rs144874378	16:55,730,193	A/G	—	uncertain significance
rs779214226	16:55,730,217	G/A	—	likely benign
rs774974592	16:55,730,234	G/T	—	likely benign
rs1566652	16:55,731,575	G/T	intron variant	—
rs5569	16:55,731,835	G/A	synonymous variant	benign
rs938372864	16:55,731,867	G/A	—	uncertain significance
rs760483255	16:55,731,878	C/T	—	uncertain significance
rs140641227	16:55,731,916	C/T	—	benign
rs121918126	16:55,731,917	G/A	missense variant	pathogenic
rs746339091	16:55,731,933	C/G	—	uncertain significance
rs998424	16:55,731,946	G/A	regulatory region variant	benign
rs138435822	16:55,732,392	C/T	—	likely benign
rs1597013950	16:55,732,401	C/A	—	likely benign
rs1805067	16:55,732,423	G/A	missense variant	—
rs759824538	16:55,732,447	C/G	—	uncertain significance
rs1246524447	16:55,732,462	G/A	—	uncertain significance
rs36009	16:55,732,620	C/T	intron variant	—
rs755982579	16:55,733,522	T/C	—	uncertain significance
rs5558	16:55,733,559	T/G	missense variant	—
rs1085307494	16:55,733,560	C/G	—	uncertain significance
rs1800887	16:55,733,589	T/C	intron variant	—
rs1433462368	16:55,734,054	G/A	—	uncertain significance
rs8049681	16:55,735,350	G/A	intron variant	—
rs144546216	16:55,735,781	G/T	—	uncertain significance
rs5560	16:55,735,795	G/A	—	benign
rs373241242	16:55,735,814	C/G	—	uncertain significance
rs201793493	16:55,735,817	G/C	—	conflicting classifications of pathogenicity
rs2543841601	16:55,735,829	G/A	—	uncertain significance
rs139680023	16:55,735,842	T/A	—	likely benign
rs2242447	16:55,735,912	C/A	—	—
rs370208376	16:55,736,237	G/A	—	likely benign
rs192171814	16:55,736,564	C/T	—	uncertain significance
rs886052141	16:55,737,275	G/A	—	uncertain significance
rs42460	16:55,737,656	G/A	—	uncertain significance
rs7194256	16:55,737,691	C/T	regulatory region variant	—

Gene information from NCBI Gene. Variant classifications from ClinVar.