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See other ABHD17A CNV Assays ›
Gene Symbol
ABHD17A
Assay Reference Genome
Location

Chr.19:1882258 on build GRCh38
Cytoband
19p13.3
Assay ID Hs04033977_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

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 2587 XP_011526640.1
XM_017027341.1 1 2587 XP_016882830.1
XM_017027342.1 1 2587 XP_016882831.1
AK024419.1 1 473 BAB15709.1
AK074043.1 1 1543 BAB84869.1
AK074548.1 BAC11052.1
AK090438.1 1 1345 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 MIR1909 CSNK1G2-AS1 SCAMP4 IZUMO4 ONECUT3 AP3D1 MOB3A ATP8B3 CSNK1G2 KLF16 ABHD17A ADAT3 REXO1 MKNK2 BTBD2 LOC100288123
esv32942 Chr.19:1320268 - 1999205 on Build GRCh38 Gain+Loss PLK5 NDUFS7 ONECUT3 TCF3 PCSK4 CSNK1G2 C19orf25 ABHD17A GAMT APC2 MBD3 MIR1909 MEX3D CSNK1G2-AS1 SCAMP4 ADAMTSL5 MUM1 ATP8B3 DAZAP1 REEP6 KLF16 ADAT3 REXO1 BTBD2 LOC100288123 UQCR11 RPS15
nsv470107 Chr.19:1782799 - 2100347 on Build GRCh38 Loss MIR1909 CSNK1G2-AS1 SCAMP4 IZUMO4 MOB3A ATP8B3 CSNK1G2 KLF16 ABHD17A ADAT3 REXO1 MKNK2 BTBD2 LOC100288123
nsv1160560 Chr.19:1791100 - 1916393 on Build GRCh38 Deletion MIR1909 ATP8B3 SCAMP4 KLF16 ABHD17A ADAT3 REXO1 LOC100288123
nsv578337 Chr.19:1808864 - 1904613 on Build GRCh38 Gain MIR1909 ATP8B3 KLF16 ABHD17A REXO1 LOC100288123
nsv953942 Chr.19:1371602 - 2057401 on Build GRCh38 Deletion PLK5 NDUFS7 ONECUT3 TCF3 PCSK4 CSNK1G2 C19orf25 ABHD17A GAMT APC2 MBD3 MIR1909 MEX3D CSNK1G2-AS1 SCAMP4 ADAMTSL5 MUM1 ATP8B3 DAZAP1 REEP6 KLF16 ADAT3 REXO1 MKNK2 BTBD2 LOC100288123 UQCR11 RPS15
nsv482208 Chr.19:1876976 - 1885519 on Build GRCh38 Gain ABHD17A

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More Information


Set Membership:

 Intragenic Exonic DGV Variation

Panther Classification:

Molecular Function -

serine protease

Gene Ontology Categories:

Function(s) Process(es)


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