Hs02950872_cn

• Gene Symbol: ORMDL2
• Assay Reference Genome Location: Chr.12:55819496 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: Overlaps Exon 3 - Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ORMDL2	NM_014182.4			NP_054901.1
	AB064961.1			BAC11712.1
	AF161509.1			AAF29124.1
	AF173375.1			AAQ13618.1
	AF395705.1			AAM43504.1
	AF395706.1			AAM43505.1
	AF395707.1			AAM43506.1
	AK223180.1			BAD96900.1
	AK314046.1
	BC012543.2			AAH12543.1
	BG750383.1

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	MMP19 BLOC1S1 DNAJC14 ORMDL2 SARNP CD63 BLOC1S1-RDH5 TMEM198B GDF11 ITGA7 RDH5

More Information

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

Gene Ontology Categories:

Process(es)

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