Hs04007600_cn

• Gene Symbol: ABHD3
• Assay Reference Genome Location: Chr.18:21667625 on build GRCh38
• Cytoband: 18q11.2

Target Gene Details

• Entrez Gene ID: 171586
• Gene Name: abhydrolase domain containing 3
• Gene Aliases: LABH3
• Location: Chr.18:21650897-21704805 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ABHD3	NM_001308256.1			NP_001295185.1
	NM_138340.4			NP_612213.2
	XM_011525847.2			XP_011524149.1
	XM_017025571.1			XP_016881060.1
	XM_017025572.1			XP_016881061.1
	XM_017025573.1			XP_016881062.1
	XM_017025574.1			XP_016881063.1
	AF007152.1			AAC19155.1
	AK024880.1
	AK298728.1
	BC021196.2			AAH21196.1
	BI918326.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2716850	Chr.18:21667117 - 21674310 on Build GRCh38	Deletion	ABHD3
esv29974	Chr.18:21593909 - 21668731 on Build GRCh38	Loss	ESCO1 SNRPD1 ABHD3

More Information

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

Panther Classification:

Molecular Function -

serine protease

Gene Ontology Categories:

Process(es)

lipid metabolic process
phosphatidylcholine biosynthetic process
phosphatidylcholine metabolic process

Function(s)

phospholipase A2 activity
phosphatidylcholine 1-acylhydrolase activity
phosphatidylserine 1-acylhydrolase activity
1-acyl-2-lysophosphatidylserine acylhydrolase activity