Hs03340474_cn

• Gene Symbol: CCDC30
• Assay Reference Genome Location: Chr.1:42549873 on build GRCh38
• Cytoband: 1p34.2

Target Gene Details

• Entrez Gene ID: 728621
• Gene Name: coiled-coil domain containing 30
• Gene Aliases: PFD6L, PFDN6L
• Location: Chr.1:42521240-42654664 on Build GRCh38
• Assay Gene Location: Within Intron 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CCDC30	NM_001080850.2			NP_001074319.1
	XM_011542067.2			XP_011540369.1
	XM_011542068.2			XP_011540370.1
	XM_011542069.2			XP_011540371.1
	XM_011542070.2			XP_011540372.1
	XM_011542071.2			XP_011540373.1
	XM_017002225.1			XP_016857714.1
	XM_017002226.1			XP_016857715.1
	AK302075.1
	AL832217.1
	AY639646.1
	BX640642.1			CAE45789.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3585850	Chr.1:42545707 - 42568957 on Build GRCh38	Gain	CCDC30
dgv29e212	Chr.1:42543567 - 42551673 on Build GRCh38	Loss	CCDC30

More Information

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