Hs05448482_cn

• Gene Symbol: CFDP1
• Assay Reference Genome Location: Chr.16:75302018 on build GRCh38
• Cytoband: 16q23.1

Target Gene Details

• Entrez Gene ID: 10428
• Gene Name: craniofacial development protein 1
• Gene Aliases: BCNT, BUCENTAUR, CENP-29, CP27, SWC5, Yeti, p97
• Location: Chr.16:75293710-75433512 on Build GRCh38
• Assay Gene Location: Within Intron 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CFDP1	NM_006324.2			NP_006315.1
	AB009285.1			BAA31867.1
	AK226031.1
	AK313948.1
	BC000991.2			AAH00991.1
	BT009819.1			AAP88821.1
	CR542111.1			CAG46908.1
	D86549.1			BAA20070.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833283	Chr.16:75268277 - 75358410 on Build GRCh38	Loss	CFDP1
esv3582321	Chr.16:75232709 - 75427727 on Build GRCh38	Loss	CFDP1 BCAR1
nsv523405	Chr.16:75194071 - 75308948 on Build GRCh38	Loss	CTRB1 LOC100506281 CTRB2 CFDP1 BCAR1

More Information

Additional Information:

For this assay, SNP(s) [rs116052199] 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, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

cell adhesion
multicellular organism development
biological_process
regulation of cell shape
regulation of cell proliferation
negative regulation of fibroblast apoptotic process

Function(s)

molecular_function