Hs06239019_cn

• Gene Symbol: DDHD2
• Assay Reference Genome Location: Chr.8:38255417 on build GRCh38
• Cytoband: 8p11.23

Target Gene Details

• Entrez Gene ID: 23259
• Gene Name: DDHD domain containing 2
• Gene Aliases: SAMWD1, SPG54, iPLA(1)gamma
• Location: Chr.8:38231343-38273442 on Build GRCh38
• Assay Gene Location: Within Intron 17

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DDHD2	NM_001164232.1			NP_001157704.1
	NM_015214.2			NP_056029.2
	XM_005273454.2			XP_005273511.1
	XM_005273455.3			XP_005273512.1
	XM_005273456.3			XP_005273513.1
	XM_011544456.1			XP_011542758.1
	XM_017013252.1			XP_016868741.1
	XM_017013253.1			XP_016868742.1
	XM_017013254.1			XP_016868743.1
	XM_017013255.1			XP_016868744.1
	XM_017013256.1			XP_016868745.1
	AB018268.1			BAA34445.1
	AK023218.1			BAB14470.1
	AK026961.1
	AK056525.1
	AK094951.1
	AK125904.1
	AK127040.1
	BC010504.1			AAH10504.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv7164n100	Chr.8:38194164 - 38310837 on Build GRCh38	Gain	DDHD2 BAG4 PLPP5 WHSC1L1

More Information

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

Panther Classification:

Molecular Function -

hydrolase, lipase, phospholipase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

phosphatidic acid biosynthetic process
ER to Golgi vesicle-mediated transport
lipid catabolic process
positive regulation of mitochondrial fission

Function(s)

phospholipase activity
triglyceride lipase activity
metal ion binding