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          • Home
          • › Search Tool
          • › Search Results
          • › Hs06532615_cn
          See other FPGT-TNNI3K CNV Assays ›
          Gene Symbol
          FPGT-TNNI3K
          Assay Reference Genome
          Location

          Chr.1:74472421 on build GRCh38
          Cytoband
          1p31.1
          Assay ID Hs06532615_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:

          100526835

          Gene Name:

          FPGT-TNNI3K readthrough

          Gene Aliases:

          -

          Location:

          Chr.1:74198212-74544432 on Build GRCh38

          Assay Gene Location:

          Within Intron 24
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          FPGT-TNNI3K NM_001112808.2 NP_001106279.2
          AB208941.1 BAD92178.1

          Target Gene Details

          Entrez Gene ID:

          105378803

          Gene Name:

          leucine-rich repeat-containing protein 53

          Gene Aliases:

          -

          Location:

          Chr.1:74468980-74540227 on Build GRCh38

          Assay Gene Location:

          Within Intron 4
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          LOC105378803 XM_011542512.2 XP_011540814.2
          XM_017003080.1 XP_016858569.1
          XM_017003081.1 XP_016858570.1

          Target Gene Details

          Entrez Gene ID:

          51086

          Gene Name:

          TNNI3 interacting kinase

          Gene Aliases:

          CARK, CCDD

          Location:

          Chr.1:74235387-74544432 on Build GRCh38

          Assay Gene Location:

          Within Intron 21
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          TNNI3K NM_015978.2 NP_057062.1
          AF116826.1 AAD29632.1
          AK307984.1
          AY303691.1 AAP72030.1
          BC113539.1
          BC117262.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2016-05-15, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          nsv1010042 Chr.1:74333172 - 74536293 on Build GRCh38 Gain LOC105378803 FPGT-TNNI3K TNNI3K
          nsv1002115 Chr.1:72379872 - 74933684 on Build GRCh38 Gain ERICH3 LOC339468 LOC105378803 LINC01360 ERICH3-AS1 LRRIQ3 FPGT-TNNI3K CRYZ TYW3 TNNI3K FPGT
          nsv522147 Chr.1:73872847 - 74518151 on Build GRCh38 Loss LOC105378803 LRRIQ3 FPGT-TNNI3K TNNI3K FPGT

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          More Information


          Set Membership:

          Intragenic Intronic Non-exonic DGV Variation

          Panther Classification:

          Molecular Function -

          non-receptor serine/threonine protein kinase

          Gene Ontology Categories:

          Function(s) Process(es)

          regulation of heart rate
          protein phosphorylation
          regulation of cardiac muscle contraction
          bundle of His cell to Purkinje myocyte communication
          regulation of cardiac conduction
          protein kinase activity
          protein serine/threonine kinase activity
          protein binding
          ATP binding
          protein C-terminus binding
          troponin I binding
          metal ion binding

          Back To Top

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