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          • Home
          • › Search Tool
          • › Search Results
          • › Hs05580014_cn
          See other NF2 CNV Assays ›
          Gene Symbol
          NF2
          Assay Reference Genome
          Location

          Chr.22:29621088 on build GRCh38
          Cytoband
          22q12.2
          Assay ID Hs05580014_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:

          4771

          Gene Name:

          neurofibromin 2

          Gene Aliases:

          ACN, BANF, SCH

          Location:

          Chr.22:29603556-29698600 on Build GRCh38

          Assay Gene Location:

          Within Intron 1
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          NF2 NM_000268.3 NP_000259.1
          NM_016418.5 NP_057502.2
          NM_181825.2 NP_861546.1
          NM_181828.2 NP_861966.1
          NM_181829.2 NP_861967.1
          NM_181830.2 NP_861968.1
          NM_181831.2 NP_861969.1
          NM_181832.2 NP_861970.1
          NM_181833.2 NP_861971.1
          AF122827.1 AAD48752.1
          AF122828.1 AAD48753.1
          AF123570.1 AAD48754.1
          AF369657.1 AAK54160.1
          AF369658.1 AAK54161.1
          AF369661.1 AAK54162.1
          AF369662.1 AAK54163.1
          AF369663.1 AAK54164.1
          AF369664.1 AAK54165.1
          AF369665.1 AAK54166.1
          AF369666.1
          AF369667.1
          AF369668.1
          AF369701.1 AAK54196.1
          AK297116.1
          BC003112.1 AAH03112.2
          BC020257.1 AAH20257.1
          CF138178.1
          CR456530.1 CAG30416.1
          EF517524.1
          L11353.1 AAA36212.1
          S73853.1 AAB31736.1
          Z22664.1 CAA80377.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2016-05-15, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          nsv834172 Chr.22:29503047 - 29661959 on Build GRCh38 Loss NIPSNAP1 THOC5 NF2

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          More Information


          Set Membership:

          Intragenic Intronic Non-exonic DGV Variation

          Panther Classification:

          Molecular Function -

          actin or actin-binding cytoskeletal protein

          Gene Ontology Categories:

          Function(s) Process(es)

          mesoderm formation
          negative regulation of cell-matrix adhesion
          negative regulation of protein kinase activity
          ectoderm development
          negative regulation of DNA replication
          negative regulation of cell proliferation
          Schwann cell proliferation
          regulation of gliogenesis
          hippocampus development
          negative regulation of cell-cell adhesion
          actin cytoskeleton organization
          negative regulation of cell growth
          negative regulation of cell migration
          regulation of protein stability
          regulation of hippo signaling
          odontogenesis of dentin-containing tooth
          negative regulation of tyrosine phosphorylation of Stat3 protein
          negative regulation of tyrosine phosphorylation of Stat5 protein
          negative regulation of MAPK cascade
          cell-cell junction organization
          positive regulation of cell differentiation
          negative regulation of JAK-STAT cascade
          positive regulation of stress fiber assembly
          lens fiber cell differentiation
          regulation of stem cell proliferation
          regulation of protein localization to nucleus
          regulation of neural precursor cell proliferation
          actin binding
          integrin binding
          protein binding
          beta-catenin binding
          protein domain specific binding

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