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          • Home
          • › Search Tool
          • › Search Results
          • › Hs05468223_cn
          See other RPGRIP1L CNV Assays ›
          Gene Symbol
          RPGRIP1L
          Assay Reference Genome
          Location

          Chr.16:53688433 on build GRCh38
          Cytoband
          16q12.2
          Assay ID Hs05468223_cn
          Size
          Availability Made To Order
          Catalog # 4400291
          Price
          Your Price
          Online offer:
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          • Genomic Map
          • Assay Details
          • More Information

          Genomic Map

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          Assay Details

          Target Gene Details

          Entrez Gene ID:

          23322

          Gene Name:

          RPGRIP1 like

          Gene Aliases:

          CORS3, FTM, JBTS7, MKS5, NPHP8, PPP1R134

          Location:

          Chr.16:53599239-53703934 on Build GRCh38

          Assay Gene Location:

          Within Intron 4
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          RPGRIP1L XM_005255867.1 XP_005255924.1
          XM_005255868.1 XP_005255925.1
          XM_011522970.1 XP_011521272.1
          XM_011522971.2 XP_011521273.1
          XM_011522973.2 XP_011521275.1
          XM_017023094.1 XP_016878583.1
          XM_017023095.1 XP_016878584.1
          XM_017023096.1 XP_016878585.1
          XM_017023097.1 XP_016878586.1
          XM_017023100.1 XP_016878589.1
          AK096333.1
          AK304790.1
          AK307929.1
          AK308390.1
          BC017977.1
          BC136433.1
          CR749645.1 CAH18439.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2016-05-15, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          esv3892861 Chr.16:53664764 - 53756994 on Build GRCh38 Loss FTO RPGRIP1L

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          More Information


          Set Membership:

          Intragenic Intronic Non-exonic DGV Variation

          Panther Classification:

          Molecular Function -

          scaffold/adaptor protein

          Gene Ontology Categories:

          Function(s) Process(es)

          in utero embryonic development
          establishment of planar polarity
          kidney development
          liver development
          establishment or maintenance of cell polarity
          determination of left/right symmetry
          regulation of smoothened signaling pathway
          neural tube patterning
          cerebellum development
          lateral ventricle development
          olfactory bulb development
          corpus callosum development
          embryonic forelimb morphogenesis
          embryonic hindlimb morphogenesis
          cilium assembly
          camera-type eye development
          nose development
          negative regulation of G-protein coupled receptor protein signaling pathway
          pericardium development
          cochlea development
          protein binding
          thromboxane A2 receptor binding

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