View gene PPT1

General information
Gene symbol PPT1
Gene name palmitoyl-protein thioesterase 1
Chromosome 1
Chromosomal band p32
Imprinted Unknown
Genomic reference NG_009192.1
Transcript reference NM_000310.3
Exon/intron information NM_000310.3
Associated with diseases CLN-1
Citation reference(s) Kousi et al. 2012
Refseq URL Genomic reference sequence
Curators (1) Juha Muilu
Total number of public variants reported 4
Unique public DNA variants reported 4
Individuals with public variants 2
Hidden variants 2
Notes See NCL Resource - A gateway for Batten disease database for PPT1 mutations

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 April 05, 2011
Date last updated April 02, 2015
Version PPT1:150402

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
NCL Resource - A gateway for Batten disease database
HGNC 9325
Entrez Gene 5538
PubMed articles PPT1
OMIM - Gene 600722
OMIM - Diseases CLN-1 (lipofuscinosis, ceroid, neuronal, type 1 (CLN-1))
HGMD PPT1
GeneCards PPT1
GeneTests PPT1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000104 1 palmitoyl-protein thioesterase 1, transcript variant 1 NM_000310.3 NP_000301.1 6


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