Hs02003790_cn

• Gene Symbol: CNPPD1
• Assay Reference Genome Location: Chr.2:219175690 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: Overlaps Intron 5 - Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CNPPD1	NM_001321389.1			NP_001308318.1
	NM_001321390.1			NP_001308319.1
	NM_001321391.1			NP_001308320.1
	NM_015680.5			NP_056495.3
	NR_135628.1
	NR_135629.1
	AF151815.1			AAD34052.1
	AK075274.1
	AK311656.1	2	813
	AK314975.1
	AY007160.1			AAG02008.1
	BC001393.2			AAH01393.1
	BC012821.2			AAH12821.1
	BI912613.1
	CR457401.1			CAG33682.1
	CX166359.1
	DB477110.1
	HY106884.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv3170	Chr.2:219173471 - 219201899 on Build GRCh38	Deletion	CNPPD1 FAM134A
nsv508200	Chr.2:219134744 - 219202175 on Build GRCh38	Deletion	SLC23A3 CNPPD1 NHEJ1 FAM134A
esv3893555	Chr.2:219172722 - 219273269 on Build GRCh38	Loss	ATG9A ABCB6 TUBA4A ZFAND2B TUBA4B GLB1L CNPPD1 STK16 ANKZF1 FAM134A

More Information

Additional Information:

For this assay, SNP(s) [rs115790738] 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, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

regulation of cyclin-dependent protein serine/threonine kinase activity

Function(s)

protein kinase binding