Hs01726580_cn

• Gene Symbol: ABHD12
• Assay Reference Genome Location: Chr.20:25300221 on build GRCh38
• Cytoband: 20p11.21

Target Gene Details

• Entrez Gene ID: 26090
• Gene Name: abhydrolase domain containing 12
• Gene Aliases: ABHD12A, BEM46L2, C20orf22, PHARC, dJ965G21.2
• Location: Chr.20:25294743-25390982 on Build GRCh38
• Assay Gene Location: Overlaps Intron 16 - Exon 16

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ABHD12	NM_001042472.2			NP_001035937.1
	NM_015600.4			NP_056415.1
	XM_011529214.2			XP_011527516.1
	XM_017027796.1			XP_016883285.1
	AK075023.1			BAC11357.1
	AL117442.1			CAB55927.1
	BC014049.2			AAH14049.1
	BQ574269.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv779e214	Chr.20:25104610 - 25367702 on Build GRCh38	Gain	LOC101926889 LOC284798 ABHD12 ENTPD6 PYGB LOC105372580
nsv522873	Chr.20:23923336 - 26134874 on Build GRCh38	Gain	ZNF337-AS1 ENTPD6 LOC105372580 LOC105372585 FLJ33581 LOC101926889 ACSS1 FAM182A NANP ABHD12 PYGB SYNDIG1 LOC101926955 NINL LOC284798 LOC101926935 CST7 LOC100134868 LOC105372582 GGTLC1 GINS1 VSX1 VN1R108P FAM182B ZNF337 APMAP NCOR1P1
nsv585746	Chr.20:25090818 - 25489420 on Build GRCh38	Gain	LOC101926889 LOC284798 ABHD12 GINS1 ENTPD6 PYGB LOC105372580 NINL
dgv4290n100	Chr.20:25086650 - 25494993 on Build GRCh38	Gain	LOC101926889 LOC284798 ABHD12 GINS1 ENTPD6 PYGB LOC105372580 NINL
esv3645582	Chr.20:25284710 - 25318462 on Build GRCh38	Loss	ABHD12 PYGB
nsv833948	Chr.20:25251090 - 25429904 on Build GRCh38	Loss	ABHD12 GINS1 PYGB

More Information

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

Panther Classification:

Molecular Function -

serine protease

Gene Ontology Categories:

Process(es)

phosphatidylserine catabolic process
adult walking behavior
response to auditory stimulus
acylglycerol catabolic process

Function(s)

acylglycerol lipase activity