Product Details

Assay Reference Genome
Location

Chr.14:21303457 on build GRCh38
Cytoband
14q11.2
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
57096
Gene Symbol
RPGRIP1
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 Exon 5
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
RPGRIP1 NM_020366.3 5 714 NP_065099.3
AJ417067.1 5 714 CAD01135.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv1054778 Chr14:21294781 - 21334420 on Build GRCh38 Gain RPGRIP1

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