Hs04022440_cn

• Gene Symbol: BLOC1S3
• Assay Reference Genome Location: Chr.19:45185451 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:

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BLOC1S3

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	EXOC3L2 BLOC1S3 MARK4 TRAPPC6A
esv3583434	Chr.19:45185375 - 45248399 on Build GRCh38	Loss	EXOC3L2 BLOC1S3
nsv833844	Chr.19:45181051 - 45384148 on Build GRCh38	Loss	EXOC3L2 KLC3 ERCC2 CKM BLOC1S3 MARK4 PPP1R13L
nsv833843	Chr.19:45090630 - 45290424 on Build GRCh38	Loss	EXOC3L2 GEMIN7 NKPD1 PPP1R37 BLOC1S3 MARK4 TRAPPC6A

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation