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: | Overlaps Intron 10 - Exon 11 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RPGRIP1 | NM_020366.3 | NP_065099.3 | ||
XM_005267879.2 | XP_005267936.1 | |||
XM_005267880.2 | XP_005267937.1 | |||
XM_011536978.1 | XP_011535280.1 | |||
XM_011536979.1 | XP_011535281.1 | |||
XM_011536980.1 | XP_011535282.1 | |||
XM_011536981.1 | XP_011535283.1 | |||
XM_011536982.1 | XP_011535284.1 | |||
XM_017021473.1 | XP_016876962.1 | |||
AF260257.1 | AAF91371.1 | |||
AJ417067.1 | CAD01135.1 | |||
AK301780.1 | ||||
BC039089.1 | AAH39089.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2663580 | Chr.14:21317900 - 21327134 on Build GRCh38 | Deletion | RPGRIP1 |
esv3633710 | Chr.14:21317904 - 21327227 on Build GRCh38 | Loss | RPGRIP1 |
nsv1054778 | Chr.14:21294781 - 21334420 on Build GRCh38 | Gain | RPGRIP1 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |