Hs04031932_cn

• Gene Symbol: ABHD17A
• Assay Reference Genome Location: Chr.19:1883483 on build GRCh38
• Cytoband: 19p13.3

Target Gene Details

• Entrez Gene ID: 81926
• Gene Name: abhydrolase domain containing 17A
• Gene Aliases: C19orf27, FAM108A1
• Location: Chr.19:1876965-1885519 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ABHD17A	NM_001130111.1			NP_001123583.1
	NM_031213.3			NP_112490.3
	XM_011528338.1	1	1362	XP_011526640.1
	XM_017027341.1	1	1362	XP_016882830.1
	XM_017027342.1	1	1362	XP_016882831.1
	AK074043.1	1	318	BAB84869.1
	AK074548.1			BAC11052.1
	AK090438.1	1	120	BAC03419.1
	AK289533.1
	BC009256.2			AAH09256.1
	BC011667.2			AAH11667.1
	BC020512.1			AAH20512.1
	BC033749.1			AAH33749.1
	BC035961.1			AAH35961.1
	BC071644.1			AAH71644.1
	BC071876.1			AAH71876.1
	BC094816.1			AAH94816.1
	DB025570.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3893156	Chr.19:1766738 - 2115791 on Build GRCh38	Loss	KLF16 ONECUT3 SCAMP4 AP3D1 ADAT3 CSNK1G2-AS1 CSNK1G2 MOB3A MIR1909 LOC100288123 MKNK2 BTBD2 IZUMO4 ATP8B3 ABHD17A REXO1
esv32942	Chr.19:1320268 - 1999205 on Build GRCh38	Gain+Loss	KLF16 GAMT TCF3 PCSK4 PLK5 MUM1 NDUFS7 CSNK1G2-AS1 UQCR11 CSNK1G2 REXO1 REEP6 MEX3D ONECUT3 RPS15 SCAMP4 C19orf25 ADAT3 APC2 DAZAP1 ADAMTSL5 MIR1909 LOC100288123 MBD3 BTBD2 ATP8B3 ABHD17A
nsv470107	Chr.19:1782799 - 2100347 on Build GRCh38	Loss	KLF16 SCAMP4 ADAT3 CSNK1G2-AS1 CSNK1G2 MOB3A MIR1909 LOC100288123 MKNK2 BTBD2 IZUMO4 ATP8B3 ABHD17A REXO1
nsv1160560	Chr.19:1791100 - 1916393 on Build GRCh38	Deletion	KLF16 MIR1909 SCAMP4 LOC100288123 ADAT3 ATP8B3 ABHD17A REXO1
nsv578337	Chr.19:1808864 - 1904613 on Build GRCh38	Gain	KLF16 MIR1909 LOC100288123 ATP8B3 ABHD17A REXO1
nsv953942	Chr.19:1371602 - 2057401 on Build GRCh38	Deletion	KLF16 GAMT TCF3 PCSK4 PLK5 MUM1 NDUFS7 CSNK1G2-AS1 UQCR11 CSNK1G2 MKNK2 REXO1 REEP6 MEX3D ONECUT3 RPS15 SCAMP4 C19orf25 ADAT3 APC2 DAZAP1 ADAMTSL5 MIR1909 LOC100288123 MBD3 BTBD2 ATP8B3 ABHD17A
nsv482208	Chr.19:1876976 - 1885519 on Build GRCh38	Gain	ABHD17A

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

serine protease

Gene Ontology Categories:

Process(es)

biological_process

Function(s)

protein binding
hydrolase activity