Hs02185496_cn

• Gene Symbol: CNPPD1
• Assay Reference Genome Location: Chr.2:219172060 on build GRCh38
• Cytoband: 2q35

Target Gene Details

• Entrez Gene ID: 27013
• Gene Name: cyclin Pas1/PHO80 domain containing 1
• Gene Aliases: C2orf24, CGI-57
• Location: Chr.2:219171897-219178174 on Build GRCh38
• Assay Gene Location: Within Exon 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CNPPD1	NM_001321389.1	9	2187	NP_001308318.1
	NM_001321390.1	9	1832	NP_001308319.1
	NM_001321391.1	9	1866	NP_001308320.1
	NM_015680.5	8	1924	NP_056495.3
	NR_135628.1	8	1804
	NR_135629.1	7	1862
	AF070638.1	2	1186	AAC25393.1
	AK075274.1	8	1880
	AY007160.1	8	1897	AAG02008.1
	BC001393.2	8	1847	AAH01393.1
	BC012821.2	8	1896	AAH12821.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv508200	Chr.2:219134744 - 219202175 on Build GRCh38	Deletion	SLC23A3 FAM134A CNPPD1 NHEJ1

More Information

Additional Information:

For this assay, SNP(s) [rs73993507] 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

Panther Classification:

Molecular Function -

transporter

Gene Ontology Categories:

Process(es)

regulation of cyclin-dependent protein serine/threonine kinase activity

Function(s)

protein kinase binding