Hs02979892_cn

• Gene Symbol: ORMDL2
• Assay Reference Genome Location: Chr.12:55820520 on build GRCh38
• Cytoband: 12q13.2

Target Gene Details

• Entrez Gene ID: 29095
• Gene Name: ORMDL sphingolipid biosynthesis regulator 2
• Gene Aliases: HSPC160, MST095, MSTP095, adoplin-2
• Location: Chr.12:55818022-55821175 on Build GRCh38
• Assay Gene Location: Within Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ORMDL2	NM_014182.4	4	679	NP_054901.1
	AB064961.1	4	633	BAC11712.1
	AF395705.1	3	594	AAM43504.1
	AK223180.1	4	620	BAD96900.1
	BC012543.2	3	589	AAH12543.1
	BG750383.1	2	341

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832423	Chr.12:55687038 - 55859914 on Build GRCh38	Gain	BLOC1S1 ITGA7 BLOC1S1-RDH5 DNAJC14 RDH5 MMP19 TMEM198B CD63 SARNP ORMDL2 GDF11

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

ceramide metabolic process
cellular sphingolipid homeostasis
negative regulation of ceramide biosynthetic process