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 Exon 17 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RPGRIP1 | NM_020366.3 | 16 | 2416 | NP_065099.3 |
XM_005267879.2 | 7 | 1408 | XP_005267936.1 | |
XM_005267880.2 | 7 | 1375 | XP_005267937.1 | |
XM_005267881.3 | 5 | 903 | XP_005267938.1 | |
XM_011536978.1 | 7 | 1408 | XP_011535280.1 | |
XM_011536979.1 | 8 | 1192 | XP_011535281.1 | |
XM_011536980.1 | 7 | 1063 | XP_011535282.1 | |
XM_011536981.1 | XP_011535283.1 | |||
XM_011536982.1 | XP_011535284.1 | |||
XM_017021473.1 | XP_016876962.1 | |||
AF227257.1 | 5 | 844 | AAG10246.1 | |
AF260257.1 | 7 | 1368 | AAF91371.1 | |
AF265666.1 | 5 | 843 | AAG10000.1 | |
AF265667.1 | 5 | 609 | AAG10001.1 | |
AJ417067.1 | 16 | 2416 | CAD01135.1 | |
AK301780.1 | ||||
BC039089.1 | AAH39089.1 | |||
BX571740.1 | 3 | 1348 | CAE11866.1 |
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 |
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esv3633710 | Chr.14:21317904 - 21327227 on Build GRCh38 | Loss |
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nsv1054778 | Chr.14:21294781 - 21334420 on Build GRCh38 | Gain |
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![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)
More Information
Additional Information:
For this assay, SNP(s) [rs142796310] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
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Panther Classification:
Gene Ontology Categories:
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)