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          • Home
          • › Search Tool
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          • › Hs04293536_cn
          See other ADAMTS12 CNV Assays ›
          Gene Symbol
          ADAMTS12
          Assay Reference Genome
          Location

          Chr.5:33524458 on build GRCh38
          Cytoband
          5p13.3
          Assay ID Hs04293536_cn
          Size
          Availability Made To Order
          Catalog # 4400291
          Price
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          • Genomic Map
          • Assay Details
          • More Information

          Genomic Map

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          Assay Details

          Target Gene Details

          Entrez Gene ID:

          81792

          Gene Name:

          ADAM metallopeptidase with thrombospondin type 1 motif 12

          Gene Aliases:

          PRO4389

          Location:

          Chr.5:33523535-33892180 on Build GRCh38

          Assay Gene Location:

          Within Exon 27
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          ADAMTS12 NM_001324512.1 22 7596 NP_001311441.1
          NM_030955.3 24 7851 NP_112217.2
          XM_017009905.1 25 7950 XP_016865394.1
          XM_017009906.1 24 7351 XP_016865395.1
          XM_017009907.1 17 6243 XP_016865396.1
          XM_017009908.1 14 5835 XP_016865397.1
          XM_017009909.1 13 5749 XP_016865398.1
          AK001058.1 1 709

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2016-05-15, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          nsv818344 Chr.5:33518122 - 33546327 on Build GRCh38 Loss ADAMTS12
          esv2666709 Chr.5:33517164 - 33525994 on Build GRCh38 Deletion ADAMTS12
          esv3604655 Chr.5:33517142 - 33526062 on Build GRCh38 Loss ADAMTS12
          esv2759339 Chr.5:33521973 - 33548909 on Build GRCh38 Loss ADAMTS12
          nsv830253 Chr.5:33470326 - 33691259 on Build GRCh38 Loss ADAMTS12
          dgv5625n100 Chr.5:33520482 - 33546296 on Build GRCh38 Gain ADAMTS12
          nsv522715 Chr.5:33319157 - 34037875 on Build GRCh38 Gain C1QTNF3-AMACR AMACR ADAMTS12 TARS C1QTNF3 RXFP3 SLC45A2
          esv3604646 Chr.5:33280396 - 33574577 on Build GRCh38 Gain ADAMTS12 TARS

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          More Information


          Set Membership:

          Intragenic Exonic DGV Variation

          Panther Classification:

          Molecular Function -

          metalloprotease

          Gene Ontology Categories:

          Function(s) Process(es)

          cell-matrix adhesion
          cell migration
          proteoglycan catabolic process
          negative regulation of chondrocyte differentiation
          regulation of inflammatory response
          proteolysis involved in cellular protein catabolic process
          cellular response to interleukin-1
          cellular response to tumor necrosis factor
          cellular response to BMP stimulus
          regulation of endothelial tube morphogenesis
          negative regulation of hepatocyte growth factor receptor signaling pathway
          negative regulation of cellular response to vascular endothelial growth factor stimulus
          negative regulation of cellular response to hepatocyte growth factor stimulus
          metalloendopeptidase activity
          protein binding
          zinc ion binding

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