Hs04017586_cn

• Gene Symbol: BLOC1S3
• Assay Reference Genome Location: Chr.19:45180141 on build GRCh38
• Cytoband: 19q13.32

Target Gene Details

• Entrez Gene ID: 388552
• Gene Name: biogenesis of lysosomal organelles complex 1 subunit 3
• Gene Aliases: BLOS3, HPS8, RP
• Location: Chr.19:45178745-45202715 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BLOC1S3	NM_212550.4	2	941	NP_997715.1
	AK130186.1	1	220	BAC85300.1
	AK296695.1	2	939

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv2422482	Chr.19:45173447 - 45266547 on Build GRCh38	Duplication	MARK4 EXOC3L2 TRAPPC6A BLOC1S3
esv1005203	Chr.19:45172554 - 45181610 on Build GRCh38	Deletion	TRAPPC6A BLOC1S3
nsv833843	Chr.19:45090630 - 45290424 on Build GRCh38	Loss	PPP1R37 MARK4 NKPD1 EXOC3L2 TRAPPC6A BLOC1S3 GEMIN7

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

eye development
anterograde axonal transport
platelet activation
neuron projection development
melanosome transport
melanosome organization
positive regulation of natural killer cell activation
secretion of lysosomal enzymes
endosome to melanosome transport
response to drug
pigmentation
anterograde synaptic vesicle transport
platelet dense granule organization
protein transmembrane transport

Function(s)

molecular_function
protein binding
protein transmembrane transporter activity