Hs03974167_cn

• Gene Symbol: CCDC40
• Assay Reference Genome Location: Chr.17:80037016 on build GRCh38
• Cytoband: 17q25.3

Target Gene Details

• Entrez Gene ID: 55036
• Gene Name: coiled-coil domain containing 40
• Gene Aliases: CILD15, FAP172
• Location: Chr.17:80036632-80100613 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CCDC40	NM_001243342.1			NP_001230271.1
	NM_017950.3			NP_060420.2
	XM_005257492.4			XP_005257549.1
	XM_011524963.2			XP_011523265.1
	XM_011524965.2			XP_011523267.1
	XM_017024807.1			XP_016880296.1
	AK000760.1			BAA91365.1
	BC035251.1			AAH35251.1
	BC058288.1			AAH58288.1
	DA842356.1
	DB230102.1
	DB236682.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1066606	Chr.17:79955666 - 80224006 on Build GRCh38	Gain	GAA CARD14 SGSH LOC105371920 MIR1268B TBC1D16 CCDC40 EIF4A3 SLC26A11
nsv833561	Chr.17:79977946 - 80167051 on Build GRCh38	Loss	GAA MIR1268B TBC1D16 CCDC40 EIF4A3

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

heart looping
cilium movement
epithelial cilium movement
regulation of cilium beat frequency
sperm motility
lung development
determination of pancreatic left/right asymmetry
inner dynein arm assembly
motile cilium assembly
epithelial cilium movement involved in determination of left/right asymmetry
axonemal dynein complex assembly
determination of digestive tract left/right asymmetry
determination of liver left/right asymmetry

Function(s)

molecular_function