View MCOLN1 gene homepage

General information
Gene symbol MCOLN1
Gene name mucolipin 1
Chromosome 19
Chromosomal band p13.2
Imprinted Unknown
Genomic reference NG_015806.1
Transcript reference NM_020533.2
Associated with diseases ID, Ganglioside sialidase deficiency
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 4
Unique public DNA variants reported 4
Individuals with public variants 2
Hidden variants 0
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.
Date created April 05, 2011
Date last updated April 16, 2012
Version MCOLN1:120416

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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 Orphanet
HGNC 13356
Entrez Gene 57192
PubMed articles MCOLN1
OMIM - Gene 605248
OMIM - Diseases Ganglioside sialidase deficiency
HGMD MCOLN1
GeneCards MCOLN1
GeneTests MCOLN1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000151 19 mucolipin 1 NM_020533.2 NP_065394.1 4


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