SLC27A4

solute carrier family 27 member 4

Summary

This gene encodes a member of a family of fatty acid transport proteins, which are involved in translocation of long-chain fatty acids cross the plasma membrane. This protein is expressed at high levels on the apical side of mature enterocytes in the small intestine, and appears to be the principal fatty acid transporter in enterocytes. Clinical studies suggest this gene as a candidate gene for the insulin resistance syndrome. Mutations in this gene have been associated with ichthyosis prematurity syndrome. [provided by RefSeq, Apr 2010]

Known Variants389 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2131249868	9:131,105,404	A/G	—	likely pathogenic
rs142366975	9:131,105,412	A/G	—	pathogenic
rs587776375	9:131,105,424	G/T	—	not provided
rs1331404300	9:131,105,432	G/T	—	likely benign
rs1832602011	9:131,105,438	G/A	—	likely benign
rs941992702	9:131,105,439	G/T	—	uncertain significance
rs1273355497	9:131,105,447	G/C	—	likely benign
rs774441905	9:131,105,455	A/G	—	uncertain significance
rs1037629923	9:131,105,457	C/T	—	likely benign
rs771351557	9:131,105,474	C/T	—	likely benign
rs777159527	9:131,105,482	A/G	—	uncertain significance
rs2539446558	9:131,105,492	C/T	—	likely benign
rs916461343	9:131,105,510	C/T	—	likely benign
rs766257677	9:131,105,521	G/C	—	uncertain significance
rs753724861	9:131,105,522	C/T	—	likely benign
rs761973333	9:131,105,525	C/T	—	likely benign
rs201114376	9:131,105,529	C/T	—	uncertain significance
rs746350316	9:131,105,539	G/A	—	uncertain significance
rs747605541	9:131,105,555	C/T	—	likely benign
rs965117658	9:131,105,563	G/A	—	uncertain significance
rs151270996	9:131,105,564	C/T	—	likely benign
rs2539446788	9:131,105,570	C/T	—	likely benign
rs766174837	9:131,105,586	C/T	—	likely benign
rs1318687342	9:131,105,587	C/T	—	likely benign
rs143662747	9:131,105,589	G/C	—	likely benign
rs372097193	9:131,105,590	C/G	—	likely benign
rs939538925	9:131,107,421	T/C	—	likely benign
rs2131253044	9:131,107,426	A/G	—	likely benign
rs914016642	9:131,107,427	C/T	—	likely benign
rs762085131	9:131,107,437	C/G	—	likely benign
rs1260284783	9:131,107,438	G/A	—	uncertain significance
rs140481562	9:131,107,439	G/T	—	conflicting classifications of pathogenicity
rs181020996	9:131,107,440	C/T	—	benign
rs1270812749	9:131,107,461	G/A	—	likely benign
rs770580187	9:131,107,476	G/A	—	likely benign
rs370325524	9:131,107,491	G/A	—	likely benign
rs768679929	9:131,107,497	A/G	—	likely benign
rs774503026	9:131,107,500	G/T	—	likely benign
rs1266990045	9:131,107,512	T/C	—	likely benign
rs767885744	9:131,107,521	C/G	—	likely benign
rs587776372	9:131,107,522	G/A	—	not provided
rs150462602	9:131,107,525	C/T	—	uncertain significance
rs751081479	9:131,107,529	G/A	—	uncertain significance
rs745491506	9:131,107,533	C/T	—	likely benign
rs377410741	9:131,107,537	G/A	—	uncertain significance
rs376025892	9:131,107,545	G/A	—	likely benign
rs137853132	9:131,107,546	G/A	missense variant	pathogenic
rs773606505	9:131,107,557	C/T	—	likely benign
rs760973751	9:131,107,560	G/A	—	likely benign
rs371922995	9:131,107,569	T/C	—	likely benign
rs369725225	9:131,107,585	C/T	—	uncertain significance
rs142664086	9:131,107,586	G/A	—	likely benign
rs756803261	9:131,107,587	C/A	—	likely benign
rs748034205	9:131,107,591	C/T	—	likely benign
rs755781288	9:131,107,593	G/C	—	likely benign
rs2539449973	9:131,107,599	G/A	—	likely benign
rs1287517728	9:131,107,602	C/T	—	likely benign
rs754681667	9:131,107,611	T/C	—	likely benign
rs587776376	9:131,107,624	C/T	—	not provided
rs146902785	9:131,107,628	A/T	—	uncertain significance
rs56224008	9:131,107,634	G/A	—	benign
rs2539450099	9:131,107,638	C/T	—	likely benign
rs2539450114	9:131,107,644	C/T	—	likely benign
rs1410819650	9:131,107,647	G/C	—	likely benign
rs759965140	9:131,107,650	C/T	—	likely benign
rs1412114835	9:131,107,653	T/C	—	likely benign
rs1832639989	9:131,107,662	C/T	—	likely benign
rs979492737	9:131,107,669	A/C	—	uncertain significance
rs148684713	9:131,107,679	G/A	—	likely benign
rs142183053	9:131,107,683	T/C	—	benign
rs959279096	9:131,107,686	G/C	—	uncertain significance
rs747250280	9:131,107,687	T/G	—	uncertain significance
rs771099337	9:131,107,689	C/T	—	likely benign
rs777782415	9:131,107,698	A/G	—	likely benign
rs373461078	9:131,107,704	G/A	—	likely benign
rs770864785	9:131,107,719	C/T	—	likely benign
rs1832641771	9:131,107,734	C/T	—	likely benign
rs769183616	9:131,107,745	C/A	—	uncertain significance
rs765777510	9:131,107,750	C/T	—	likely benign
rs1165461682	9:131,107,755	G/A	—	likely benign
rs764884901	9:131,107,756	C/T	—	uncertain significance
rs1832642665	9:131,107,758	G/C	—	likely benign
rs983183281	9:131,107,762	G/A	—	uncertain significance
rs139914381	9:131,107,764	T/C	—	likely benign
rs137853131	9:131,107,776	C/A	stop gained	pathogenic
rs2539450609	9:131,107,782	C/T	—	likely benign
rs587776377	9:131,107,785	C/T	—	likely benign
rs745905373	9:131,107,787	C/T	—	uncertain significance
rs769915825	9:131,107,788	G/A	—	likely benign
rs587776378	9:131,107,791	C/T	—	likely benign
rs139712194	9:131,107,792	G/A	—	uncertain significance
rs1675695042	9:131,107,794	A/T	—	likely benign
rs587776379	9:131,107,795	C/T	—	uncertain significance
rs550881707	9:131,107,796	G/A	—	uncertain significance
rs2539450699	9:131,107,800	C/G	—	likely benign
rs149776553	9:131,107,806	C/G	—	likely benign
rs185999764	9:131,107,815	C/T	—	likely benign
rs770042965	9:131,107,816	G/A	—	uncertain significance
rs368207076	9:131,107,830	T/G	splice region variant	pathogenic
rs1373050901	9:131,107,837	C/T	—	likely benign

Showing 100 of 389 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.