Assay Details
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 1 |
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 |
---|---|---|---|
nsv509527 | Chr.14:21258526 - 21302138 on Build GRCh38 | Insertion | HNRNPC RPGRIP1 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |