Hs01211873_cn

• Gene Symbol: OSTM1
• Assay Reference Genome Location: Chr.6:108044788 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	1088	NP_054747.2
	AF077205.1	4	441	AAD27000.1
	AF533891.1	6	1072	AAO72749.1
	AK075012.1	6	1014	BAC11351.1
	AK129854.1	6	1082
	AK314393.1
	AY358795.1	6	1079	AAQ89155.1
	BC068581.1	6	1070	AAH68581.1

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

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

osteoclast differentiation
ion transmembrane transport