Hs07152667_cn

• Gene Symbol: CEP89
• Assay Reference Genome Location: Chr.19:32879775 on build GRCh38
• Cytoband: 19q13.11

Target Gene Details

• Entrez Gene ID: 84902
• Gene Name: centrosomal protein 89
• Gene Aliases: CCDC123, CEP123
• Location: Chr.19:32875925-32972029 on Build GRCh38
• Assay Gene Location: Within Intron 21

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CEP89	NM_032816.4			NP_116205.3
	XM_005259344.3			XP_005259401.1
	XM_011527425.2			XP_011525727.1
	AK027546.1			BAB55190.1
	AL832158.1
	BC136328.1
	BU628988.1
	DB539713.2

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1062926	Chr.19:32828718 - 32904288 on Build GRCh38	Loss	CEP89 SLC7A9 TDRD12
esv24841	Chr.19:32879638 - 32880273 on Build GRCh38	Loss	CEP89
nsv516922	Chr.19:32844072 - 32883216 on Build GRCh38	Loss	CEP89 SLC7A9
nsv1060014	Chr.19:32854920 - 33011720 on Build GRCh38	Gain	CEP89 FAAP24 RHPN2 SLC7A9

More Information

Additional Information:

For this assay, SNP(s) [rs75674520] 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, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

mitochondrion organization
chemical synaptic transmission
nonmotile primary cilium assembly
cilium assembly

Function(s)

protein binding