Hs07072004_cn

• Gene Symbol: RPGRIP1
• Assay Reference Genome Location: Chr.14:21315631 on build GRCh38
• Cytoband: 14q11.2

Target Gene Details

• Entrez Gene ID: 57096
• Gene Name: retinitis pigmentosa GTPase regulator interacting protein 1
• Gene Aliases: CORD13, LCA6, RGI1, RGRIP, RPGRIP, RPGRIP1d
• Location: Chr.14:21287977-21351316 on Build GRCh38
• Assay Gene Location: Within Intron 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RPGRIP1	NM_020366.3			NP_065099.3
	AJ417067.1			CAD01135.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1054778	Chr.14:21294781 - 21334420 on Build GRCh38	Gain	RPGRIP1

More Information

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

Panther Classification:

Molecular Function -

scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

visual perception
eye photoreceptor cell development
response to stimulus
retina development in camera-type eye
neural precursor cell proliferation

Function(s)

protein binding