View HPS5 gene homepage

General information
Gene symbol HPS5
Gene name Hermansky-Pudlak syndrome 5
Chromosome 11
Chromosomal band p14
Imprinted Unknown
Genomic reference NG_008877.1
Transcript reference NM_181507.1
Exon/intron information NM_181507.1
Associated with diseases HPS-5
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) William (Bill) Oetting
Total number of public variants reported 10
Unique public DNA variants reported 9
Individuals with public variants 9
Hidden variants 0
Date created April 29, 2010
Date last updated April 29, 2016
Version HPS5:160429

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
Homepage URL
External URL Orphanet
HGNC 17022
Entrez Gene 11234
PubMed articles HPS5
OMIM - Gene 607521
OMIM - Diseases HPS-5 (Hermansky-Pudlak syndrome, type 5 (HPS-5))
GeneCards HPS5
GeneTests HPS5

Active transcripts




NCBI ID     

NCBI Protein ID     

00009602 11 transcript variant 1 NM_181507.1 NP_852608.1 10

Copyright & disclaimer
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