Hs01983246_cn

• Gene Symbol: ABHD14B
• Assay Reference Genome Location: Chr.3:51969343 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 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ABHD14B	NM_001146314.1	4	1410	NP_001139786.1
	NM_001254753.1	3	1171	NP_001241682.1
	NM_032750.2	4	1604	NP_116139.1
	AK075112.1	4	995	BAC11408.1
	AK092152.1	1	1795
	AK096073.1	3	1171	BAC04696.1
	AK296599.1	4	665
	AK298022.1	5	743
	AK298813.1	3	1138
	BC007234.1	4	988	AAH07234.1
	BC050650.1	4	802	AAH50650.1
	BC056411.1	4	811	AAH56411.1

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	RRP9 ABHD14A PARP3 LINC00696 ACY1 ABHD14B DUSP7 ABHD14A-ACY1 PCBP4 GPR62 RPL29
nsv508922	Chr.3:51940932 - 52009520 on Build GRCh38	Insertion	RRP9 ABHD14A PARP3 ACY1 ABHD14B ABHD14A-ACY1 PCBP4 GPR62 RPL29
nsv954857	Chr.3:51932485 - 52056584 on Build GRCh38	Deletion	RRP9 ABHD14A PARP3 ACY1 ABHD14B DUSP7 ABHD14A-ACY1 PCBP4 GPR62 RPL29
nsv520211	Chr.3:51738331 - 52132131 on Build GRCh38	Gain	IQCF1 ABHD14A ABHD14B POC1A IQCF6 PCBP4 RRP9 IQCF4 IQCF5-AS1 PARP3 IQCF3 LINC00696 ACY1 DUSP7 ABHD14A-ACY1 IQCF5 IQCF2 GPR62 RPL29

More Information

Additional Information:

For this assay, SNP(s) [rs112901597] 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