Hs00516541_cn

• Gene Symbol: CCDC18
• Assay Reference Genome Location: Chr.1:93180417 on build GRCh38
• Cytoband: 1p22.1

Target Gene Details

• Entrez Gene ID: 343099
• Gene Name: coiled-coil domain containing 18
• Gene Aliases: NY-SAR-41
• Location: Chr.1:93179802-93279037 on Build GRCh38
• Assay Gene Location: Overlaps Exon 2 - Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CCDC18	XM_017001162.1			XP_016856651.1
	XM_017001164.1			XP_016856653.1
	AW444474.1	1	54

Target Gene Details

• Entrez Gene ID: 50999
• Gene Name: transmembrane p24 trafficking protein 5
• Gene Aliases: CGI-100, p24g2, p28
• Location: Chr.1:93149742-93180689 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TMED5	NM_001167830.1	1	273	NP_001161302.1
	NM_016040.4	1	273	NP_057124.3
	NR_030761.1	1	273
	AF151858.1			AAD34095.1
	AI436590.1	1	55
	AK125882.1	1	100
	AK293308.1
	AK312787.1
	BC016365.1			AAH16365.1
	BC070051.1	1	273	AAH70051.1
	BX642274.1
	CR936808.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv830625	Chr.1:93100821 - 93269689 on Build GRCh38	Loss	MTF2 CCDC18 TMED5
nsv830614	Chr.1:93000421 - 93213143 on Build GRCh38	Loss	MTF2 CCDC18 TMED5

More Information

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

Panther Classification:

Molecular Function -

cytoskeletal protein, vesicle coat protein

Gene Ontology Categories:

Process(es)

protein transport
Golgi ribbon formation

Function(s)

protein binding