LOVD HPS1 homepage

General information
Gene name Hermansky-Pudlak syndrome 1
Gene symbol HPS1
Chromosome Location 10q23.1-q23.3
Database location https://research.cchmc.org/LOVD2/
Curator Ammar Husami
PubMed references View all (unique) PubMed references in the HPS1 database
Date of creation April 30, 2014
Last update April 30, 2014
Version HPS1 140430
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Total number of unique DNA variants reported 0
Total number of individuals with variant(s) 0
Total number of variants reported 0
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the HPS1 database, sorted by type of variant (with graphical displays and statistics)
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 5163
Entrez Gene 3257
OMIM - Gene 604982
UniProtKB (SwissProt/TrEMBL) Q92902