Hs02859577_cn

• Gene Symbol: OSTM1
• Assay Reference Genome Location: Chr.6:108042041 on build GRCh38
• Cytoband: 6q21

Target Gene Details

• Entrez Gene ID: 28962
• Gene Name: osteopetrosis associated transmembrane protein 1
• Gene Aliases: GIPN, GL, HSPC019, OPTB5
• Location: Chr.6:108041409-108074737 on Build GRCh38
• Assay Gene Location: Within Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
OSTM1	NM_014028.3	6	3835	NP_054747.2
	AJ420489.1	2	1903
	BE218267.1	1	227
	BQ716123.1	1	502

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1031826	Chr.6:107969391 - 108109876 on Build GRCh38	Loss	OSTM1
nsv604456	Chr.6:107999992 - 108043747 on Build GRCh38	Loss	OSTM1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

osteoclast differentiation
ion transmembrane transport