Hs02882959_cn

• Gene Symbol: OSTM1
• Assay Reference Genome Location: Chr.6:108043847 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	2029	NP_054747.2
	AF077205.1	4	1382	AAD27000.1
	AF533891.1	6	2013	AAO72749.1
	AJ420489.1	1	400
	AJ420572.1	1	693
	AK075012.1	6	1955	BAC11351.1
	AK129854.1	6	2023
	BC068581.1	6	2011	AAH68581.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv820169	Chr.6:108043702 - 108044006 on Build GRCh38	Loss	OSTM1
nsv1031826	Chr.6:107969391 - 108109876 on Build GRCh38	Loss	OSTM1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

osteoclast differentiation
ion transmembrane transport