Hs01064950_cn

• Gene Symbol: CPNE8
• Assay Reference Genome Location: Chr.12:38652653 on build GRCh38
• Cytoband: 12q12

Target Gene Details

• Entrez Gene ID: 144402
• Gene Name: copine 8
• Gene Aliases: -
• Location: Chr.12:38652200-38908593 on Build GRCh38
• Assay Gene Location: Within Exon 22

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CPNE8	NM_153634.2	20	3008	NP_705898.1
	XM_017018851.1	21	3981	XP_016874340.1
	XM_017018852.1	20	2954	XP_016874341.1
	AK074223.1	6	1870
	AK094998.1	8	2582
	BC046366.1	8	2325	AAH46366.1
	BX538055.1	20	3022

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv558574	Chr.12:37848227 - 38793606 on Build GRCh38	Gain	ALG10B CPNE8
esv2422488	Chr.12:37710072 - 38676932 on Build GRCh38	Duplication	ALG10B CPNE8
esv2761088	Chr.12:37463949 - 38827290 on Build GRCh38	Gain	ALG10B CPNE8
nsv558350	Chr.12:37533312 - 39041381 on Build GRCh38	Gain	ALG10B CPNE8
nsv1045040	Chr.12:38644312 - 38690292 on Build GRCh38	Gain	CPNE8
dgv1488n100	Chr.12:38565843 - 38729051 on Build GRCh38	Gain	CPNE8

More Information

Additional Information:

For this assay, SNP(s) [rs147459982] 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)

biological_process

Function(s)

molecular_function