View BLOC1S3 gene homepage

General information
Gene symbol BLOC1S3
Gene name biogenesis of lysosomal organelles complex-1, subunit 3
Chromosome 19
Chromosomal band q13.32
Imprinted Unknown
Genomic reference NG_008372.1
Transcript reference NM_212550.3
Exon/intron information NM_212550.3
Associated with diseases HPS-8
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) William (Bill) Oetting
Total number of public variants reported 2
Unique public DNA variants reported 1
Individuals with public variants 1
Hidden variants 0
Date created April 29, 2010
Date last updated July 25, 2014
Version BLOC1S3:140725

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 http://www.LOVD.nl/BLOC1S3
External URL Orphanet
HGNC 20914
Entrez Gene 388552
PubMed articles BLOC1S3
OMIM - Gene 609762
OMIM - Diseases HPS-8 (Hermansky-Pudlak syndrome, type 8 (HPS-8))
HGMD BLOC1S3
GeneCards BLOC1S3
GeneTests BLOC1S3


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00003414 19 biogenesis of lysosomal organelles complex-1, subunit 3 NM_212550.3 NP_997715.1 2


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