LCT gene homepage

General information
Gene symbol LCT
Gene name lactase
Chromosome 2
Chromosomal band q21
Imprinted Unknown
Genomic reference NG_008104.2
Transcript reference NM_002299.2
Exon/intron information NM_002299.2 exon/intron table
Associated with diseases lactase def., lactose intol.
Citation reference(s) Kuokkanen et al. 2006
Refseq URL Genomic reference sequence
Curators (1) Juha Muilu
Total number of public variants reported 29
Unique public DNA variants reported 27
Individuals with public variants 45
Hidden variants 4
Download all this gene's data Download all data
Notes The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.

This database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013:34:1458-66).
Date created August 30, 2012
Date last updated May 05, 2017
Version LCT:170505

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_002299.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL Finnish Disease Database (FinDis)
HGNC 6530
Entrez Gene 3938
PubMed articles LCT
OMIM - Gene 603202
OMIM - Diseases lactase def. (lactase deficiency, congenital)
lactose intol. (lactose intolerance (lactase persistence/nonpersistence))
GeneCards LCT
GeneTests LCT

Active transcripts




NCBI ID     

NCBI Protein ID     

00000285 2 lactase NM_002299.2 NP_002290.2 29

Copyright & disclaimer
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