Hs03503592_cn

• Gene Symbol: CC2D2A
• Assay Reference Genome Location: Chr.4:15476754 on build GRCh38
• Cytoband: 4p15.32

Target Gene Details

• Entrez Gene ID: 57545
• Gene Name: coiled-coil and C2 domain containing 2A
• Gene Aliases: JBTS9, MKS6
• Location: Chr.4:15468660-15601971 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CC2D2A	NM_001080522.2			NP_001073991.2
	NM_001164720.1			NP_001158192.1
	NM_020785.2			NP_065836.2
	XM_005248177.1			XP_005248234.1
	XM_011513872.2			XP_011512174.1
	XM_011513874.2			XP_011512176.1
	AK096047.1
	AK309178.1
	BX647334.1
	DA860072.1
	EU450799.1
	N35522.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2759227	Chr.4:15442993 - 15747897 on Build GRCh38	Gain+Loss	FBXL5 FAM200B BST1 CC2D2A C1QTNF7

More Information

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

Gene Ontology Categories:

Process(es)

neural tube closure
smoothened signaling pathway
determination of left/right symmetry
heart development
nonmotile primary cilium assembly
axoneme assembly
cilium assembly
camera-type eye development
motile cilium assembly
cilium morphogenesis
motile primary cilium assembly
embryonic brain development