Hs05859367_cn

• Gene Symbol: CNPPD1
• Assay Reference Genome Location: Chr.2:219178126 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 - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CNPPD1	NM_001321389.1			NP_001308318.1
	NM_001321390.1			NP_001308319.1
	CX166359.1
	DB443092.1

Target Gene Details

• Entrez Gene ID: 79137
• Gene Name: family with sequence similarity 134 member A
• Gene Aliases: C2orf17, MAG-2
• Location: Chr.2:219178190-219185475 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FAM134A	NM_001321109.1			NP_001308038.1
	NM_024293.5			NP_077269.3
	HY002817.1

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	FAM134A CNPPD1
nsv508200	Chr.2:219134744 - 219202175 on Build GRCh38	Deletion	FAM134A CNPPD1 SLC23A3 NHEJ1
esv3893555	Chr.2:219172722 - 219273269 on Build GRCh38	Loss	FAM134A CNPPD1 ANKZF1 ZFAND2B ATG9A TUBA4A TUBA4B STK16 GLB1L ABCB6

More Information

Additional Information:

For this assay, SNP(s) [rs73993509] 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