Hs03662899_cn

• Gene Symbol: RP1
• Assay Reference Genome Location: Chr.8:54530836 on build GRCh38
• Cytoband: 8q11.23

Target Gene Details

• Entrez Gene ID: 6101
• Gene Name: retinitis pigmentosa 1 (autosomal dominant)
• Gene Aliases: DCDC4A, ORP1
• Location: Chr.8:54509448-54630834 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RP1	XM_017013721.1			XP_016869210.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv509267	Chr.8:54511442 - 54559433 on Build GRCh38	Insertion	RP1

More Information

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

Gene Ontology Categories:

Process(es)

visual perception
phototransduction, visible light
axoneme assembly
intracellular signal transduction
photoreceptor cell outer segment organization
photoreceptor cell development
photoreceptor cell maintenance
retinal rod cell development
retinal cone cell development
retina development in camera-type eye

Function(s)

protein binding
microtubule binding