Lct - SNV Details



 Human Rare Diseases 
Congenital lactase deficiency

 Gene Information 
Gene Name Lct
Old Gene Names for Lct Gm100 , Lphl
Gene Description lactase [Source:MGI Symbol;Acc:MGI:104576]
Uniprot Name
CCDS Name
Gene GO
response to estrogen stimulus; brush border; response to lead ion; carbohydrate metabolic process; response to hypoxia; response to sucrose stimulus; transferase activity; response to drug; lactase activity; response to nickel cation; response to ethanol; cation binding; response to starvation; hydrolase activity
hydrolyzing O-glycosyl compounds; response to nutrient
Homolog in other species LCT
Omim http://omim.org/entry/603202
Immgen Expression
MEDIAN(HIGH IN GN.BM)
Gnf Expression
LOW/MEDIAN(HIGH IN LARGEINTESTINE, SMALLINTESTINE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000026354
Chromosome 1
Coordinate 128,294,266     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 65
Allele Frequency
T:R0.51
C:V0.49
Amino Acid Change N->S (Asparagine -> Serine)
Sample ID IGL02559
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 49 Other Mutations

 Predictions 

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved