Product Details

Assay Reference Genome
Location

Chr.14:21321344 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 12
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
RPGRIP1 NM_020366.3 12 1553 NP_065099.3
XM_005267879.2 3 545 XP_005267936.1
XM_005267880.2 3 545 XP_005267937.1
XM_011536978.1 3 545 XP_011535280.1
XM_011536979.1 3 545 XP_011535281.1
XM_011536980.1 3 545 XP_011535282.1
XM_011536981.1 3 545 XP_011535283.1
XM_011536982.1 3 545 XP_011535284.1
XM_017021473.1 3 545 XP_016876962.1
AF227257.1 AAG10246.1
AF260257.1 3 505 AAF91371.1
AF265666.1 AAG10000.1
AJ417067.1 12 1553 CAD01135.1
AK301780.1 3 559
AY914561.1 AAX11416.1
BC039089.1 3 544 AAH39089.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv2663580 Chr14:21317900 - 21327134 on Build GRCh38 Deletion RPGRIP1
esv3633710 Chr14:21317904 - 21327227 on Build GRCh38 Loss RPGRIP1
nsv1054778 Chr14:21294781 - 21334420 on Build GRCh38 Gain RPGRIP1

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