Assay Details
Target Gene Details
Entrez Gene ID: | 6121 |
Gene Name: | RPE65, retinoid isomerohydrolase |
Gene Aliases: |
BCO3, LCA2, RP20, mRPE65, rd12, sRPE65 |
Location: |
Chr.1:68428822-68450322 on Build GRCh38 |
Assay Gene Location: | Within Exon 14 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RPE65 | NM_000329.2 | 14 | 2109 | NP_000320.1 |
XM_017002027.1 | 13 | 2321 | XP_016857516.1 | |
U18991.1 | 14 | 2109 | AAA99012.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv546450 | Chr.1:68405344 - 68466239 on Build GRCh38 | Gain | RPE65 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |