Hs01455645_cn

• Gene Symbol: CCDC17
• Assay Reference Genome Location: Chr.1:45622597 on build GRCh38
• Cytoband: 1p34.1

Target Gene Details

• Entrez Gene ID: 149483
• Gene Name: coiled-coil domain containing 17
• Gene Aliases: -
• Location: Chr.1:45620044-45624787 on Build GRCh38
• Assay Gene Location: Within Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CCDC17	NM_001114938.2	6	961	NP_001108410.2
	NM_001190182.1	6	934	NP_001177111.1
	XM_011540812.1	5	1788	XP_011539114.1
	XM_011540814.1	5	1788	XP_011539116.1
	XM_011540820.1	5	1788	XP_011539122.1
	XM_017000450.1	5	1761	XP_016855939.1
	XM_017000451.1	4	1692	XP_016855940.1
	XM_017000452.1	6	1689	XP_016855941.1
	XM_017000453.1	5	1788	XP_016855942.1
	XM_017000454.1	5	859	XP_016855943.1
	XM_017000455.1	4	406	XP_016855944.1
	XM_017000456.1	4	407	XP_016855945.1
	XM_017000457.1	5	1788	XP_016855946.1
	XM_017000458.1	5	1788	XP_016855947.1
	AK057646.1	5	864	BAB71539.1
	AK298104.1	6	932
	AK303939.1	6	959
	AK310879.1	3	1287
	BC128178.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv822509	Chr.1:45619307 - 45623970 on Build GRCh38	Loss	CCDC17
esv3585911	Chr.1:45616829 - 45630555 on Build GRCh38	Gain	NASP GPBP1L1 CCDC17
esv3893512	Chr.1:45476180 - 46068871 on Build GRCh38	Gain	AKR1A1 TESK2 CCDC17 RPS15AP10 PIK3R3 TMEM69 NASP GPBP1L1 MAST2 MMACHC IPP CCDC163P PRDX1
nsv829726	Chr.1:45431909 - 45637514 on Build GRCh38	Loss	AKR1A1 TESK2 NASP GPBP1L1 MMACHC CCDC17 CCDC163P PRDX1

More Information

Additional Information:

For this assay, SNP(s) [rs572377574] 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, Exonic, DGV Variation

Gene Ontology Categories:

Function(s)

protein binding