LCT

lactase

Summary

The protein encoded by this gene belongs to the glycosyl hydrolase 1 family of proteins. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme is integral to the plasma membrane and has both phlorizin hydrolase activity and lactase activity. Mutations in this gene are associated with congenital lactase deficiency. Polymorphisms in this gene are associated with lactase persistence, in which intestinal lactase activity persists at childhood levels into adulthood. [provided by RefSeq, Jan 2016]

Known Variants702 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs16832011	2:136,545,299	A/G	downstream gene variant	—
rs77631953	2:136,545,465	T/G	—	likely benign
rs62170085	2:136,545,569	C/G	—	conflicting classifications of pathogenicity
rs1008625417	2:136,545,619	T/C	—	uncertain significance
rs886054860	2:136,545,643	C/T	—	uncertain significance
rs16832012	2:136,545,655	G/A	—	uncertain significance
rs116002539	2:136,545,659	G/A	—	likely benign
rs749324196	2:136,545,664	A/G	—	uncertain significance
rs1189424123	2:136,545,701	G/A	—	uncertain significance
rs1042712	2:136,545,844	C/G	—	benign
rs200994158	2:136,545,884	T/G	—	uncertain significance
rs886054861	2:136,545,907	A/G	—	uncertain significance
rs373237484	2:136,545,909	C/T	—	likely benign
rs114828879	2:136,545,910	G/A	—	uncertain significance
rs1273826559	2:136,545,912	G/C	—	uncertain significance
rs2077508407	2:136,545,917	A/C	—	uncertain significance
rs1289025611	2:136,545,930	T/G	—	likely benign
rs200101139	2:136,545,939	T/C	—	benign
rs2077508707	2:136,545,950	T/G	—	uncertain significance
rs2077508741	2:136,545,952	G/C	—	uncertain significance
rs373739977	2:136,545,954	G/T	—	likely benign
rs577825311	2:136,545,955	C/T	—	uncertain significance
rs138964370	2:136,545,956	G/A	—	conflicting classifications of pathogenicity
rs2105515408	2:136,545,966	C/G	—	uncertain significance
rs2077508964	2:136,545,968	T/G	—	uncertain significance
rs777747172	2:136,546,005	C/T	—	likely benign
rs2105515437	2:136,546,009	A/T	—	uncertain significance
rs753756238	2:136,546,014	A/G	—	likely benign
rs376732886	2:136,546,022	C/T	—	uncertain significance
rs1483785677	2:136,546,023	G/A	—	conflicting classifications of pathogenicity
rs2077509309	2:136,546,031	C/T	—	uncertain significance
rs772850804	2:136,546,052	C/T	—	conflicting classifications of pathogenicity
rs760541869	2:136,546,053	G/A	—	likely benign
rs543327667	2:136,546,058	T/C	—	uncertain significance
rs1262406667	2:136,546,059	T/C	—	likely benign
rs2467478109	2:136,546,080	C/T	—	likely benign
rs2105515508	2:136,546,089	C/G	—	likely benign
rs200786544	2:136,546,092	G/A	—	likely benign
rs2467478123	2:136,546,097	T/C	—	uncertain significance
rs774765697	2:136,546,106	G/A	—	uncertain significance
rs2278544	2:136,546,110	A/G	—	benign
rs1466522783	2:136,546,121	G/T	—	likely benign
rs112713317	2:136,546,131	C/T	—	benign
rs779656922	2:136,546,134	G/A	—	likely benign
rs72972116	2:136,546,151	C/T	—	benign
rs73958637	2:136,546,927	C/T	—	benign
rs73958638	2:136,547,067	A/G	—	benign
rs2077518427	2:136,547,134	A/G	—	uncertain significance
rs767789805	2:136,547,160	G/A	—	likely benign
rs761696901	2:136,547,175	G/A	—	conflicting classifications of pathogenicity
rs750409138	2:136,547,188	C/T	—	uncertain significance
rs2467479300	2:136,547,193	G/A	—	likely benign
rs142757602	2:136,547,199	G/A	—	likely benign
rs369410973	2:136,547,211	G/A	—	conflicting classifications of pathogenicity
rs754522191	2:136,547,218	T/C	—	uncertain significance
rs780932255	2:136,547,220	C/T	—	likely benign
rs149800696	2:136,547,244	C/T	—	likely benign
rs2467479393	2:136,547,245	A/C	—	uncertain significance
rs2105516348	2:136,547,256	A/C	—	uncertain significance
rs772144392	2:136,547,300	T/C	—	uncertain significance
rs145827881	2:136,547,313	A/G	—	conflicting classifications of pathogenicity
rs386833837	2:136,547,317	—	—	pathogenic
rs1443619474	2:136,547,322	C/T	—	likely benign
rs183725992	2:136,547,323	G/A	—	conflicting classifications of pathogenicity
rs1326579339	2:136,547,344	C/G	—	uncertain significance
rs373488627	2:136,547,358	G/A	—	likely benign
rs141776969	2:136,547,382	G/T	—	likely benign
rs72972119	2:136,547,483	G/A	—	benign
rs892717	2:136,548,116	G/C	—	benign
rs892716	2:136,548,169	A/G	—	benign
rs1808756	2:136,548,192	G/A	—	benign
rs72972122	2:136,548,206	G/T	—	benign
rs765638339	2:136,548,215	G/T	—	likely benign
rs747065034	2:136,548,223	C/T	—	uncertain significance
rs781416672	2:136,548,242	T/C	—	uncertain significance
rs1454467854	2:136,548,247	G/A	—	likely benign
rs1021701900	2:136,548,259	G/A	—	likely benign
rs201748922	2:136,548,261	A/G	—	uncertain significance
rs771913548	2:136,548,283	G/A	—	likely benign
rs776470296	2:136,548,313	A/G	—	likely benign
rs1310445675	2:136,548,352	C/T	—	likely benign
rs765699436	2:136,548,376	G/A	—	uncertain significance
rs569770794	2:136,548,388	C/G	—	uncertain significance
rs1035870978	2:136,548,389	G/A	—	uncertain significance
rs2105517283	2:136,548,393	T/C	—	uncertain significance
rs2077528793	2:136,548,428	C/T	—	uncertain significance
rs1042032103	2:136,548,435	C/T	—	uncertain significance
rs372165741	2:136,548,454	A/G	—	uncertain significance
rs3213890	2:136,552,188	G/A	—	benign
rs766888539	2:136,552,191	C/A	—	likely benign
rs1433105399	2:136,552,204	G/T	—	likely benign
rs1270867352	2:136,552,207	T/C	—	uncertain significance
rs1361288769	2:136,552,214	T/C	—	uncertain significance
rs2467485785	2:136,552,244	T/C	—	uncertain significance
rs1559548824	2:136,552,261	G/A	—	likely benign
rs1471526322	2:136,552,270	G/A	—	likely benign
rs777885594	2:136,552,285	C/T	—	likely benign
rs1385296722	2:136,552,291	A/G	—	likely benign
rs2077564901	2:136,552,294	G/A	—	likely benign
rs549401439	2:136,552,306	G/A	—	likely benign

Showing 100 of 702 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.