Hs00683323_cn

• Gene Symbol: ABHD14B
• Assay Reference Genome Location: Chr.3:51971579 on build GRCh38
• Cytoband: 3p21.2

Target Gene Details

• Entrez Gene ID: 84836
• Gene Name: abhydrolase domain containing 14B
• Gene Aliases: CIB, HEL-S-299
• Location: Chr.3:51968510-51974630 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ABHD14B	NM_001146314.1	2	786	NP_001139786.1
	NM_001254753.1			NP_001241682.1
	NM_032750.2	2	980	NP_116139.1
	AK075112.1	2	371	BAC11408.1
	AK096073.1			BAC04696.1
	AK296599.1	2	166
	AK298022.1	2	194
	AK298813.1	2	177
	BC007234.1	2	364	AAH07234.1
	BC050650.1	2	178	AAH50650.1
	BC056411.1	2	187	AAH56411.1
	DA315486.1	2	235

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1003453	Chr.3:51928065 - 52065425 on Build GRCh38	Gain	DUSP7 ABHD14A PARP3 ABHD14A-ACY1 ABHD14B RRP9 LINC00696 ACY1 RPL29 GPR62 PCBP4
nsv508922	Chr.3:51940932 - 52009520 on Build GRCh38	Insertion	ABHD14A PARP3 ABHD14A-ACY1 ABHD14B RRP9 ACY1 RPL29 GPR62 PCBP4
nsv954857	Chr.3:51932485 - 52056584 on Build GRCh38	Deletion	DUSP7 ABHD14A PARP3 ABHD14A-ACY1 ABHD14B RRP9 ACY1 RPL29 GPR62 PCBP4
nsv519445	Chr.3:51970301 - 52333916 on Build GRCh38	Gain+Loss	DUSP7 ABHD14A ABHD14B TWF2 ALAS1 DNAH1 LINC00696 MIRLET7G ACY1 GLYCTK TLR9 RPL29 GLYCTK-AS1 WDR82 LOC101929054 POC1A ABHD14A-ACY1 MIR135A1 PPM1M
nsv520211	Chr.3:51738331 - 52132131 on Build GRCh38	Gain	DUSP7 ABHD14A PARP3 ABHD14B LINC00696 ACY1 IQCF6 IQCF1 IQCF5 RPL29 IQCF3 IQCF5-AS1 POC1A ABHD14A-ACY1 RRP9 IQCF4 IQCF2 GPR62 PCBP4

More Information

Additional Information:

For this assay, SNP(s) [rs114730569] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

positive regulation of transcription from RNA polymerase II promoter
3'-phosphoadenosine 5'-phosphosulfate metabolic process

Function(s)

protein binding
hydrolase activity