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          • Home
          • › Search Tool
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          • › Hs02395685_cn
          See other SNRNP200 CNV Assays ›
          Gene Symbol
          SNRNP200
          Assay Reference Genome
          Location

          Chr.2:96274561 on build GRCh38
          Cytoband
          2q11.2
          Assay ID Hs02395685_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:

          23020

          Gene Name:

          small nuclear ribonucleoprotein U5 subunit 200

          Gene Aliases:

          ASCC3L1, BRR2, HELIC2, RP33, U5-200KD

          Location:

          Chr.2:96274336-96321893 on Build GRCh38

          Assay Gene Location:

          Within Exon 47
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          SNRNP200 NM_014014.4 45 6994 NP_054733.2
          AB018331.2 43 6532 BAA34508.2
          AW190145.1 1 237
          BC131784.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2016-05-15, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          nsv834305 Chr.2:96183160 - 96353738 on Build GRCh38 Gain SNRNP200 STARD7-AS1 NCAPH ITPRIPL1 LOC105373495 TMEM127 STARD7 CIAO1
          dgv607e201 Chr.2:95855884 - 97561622 on Build GRCh38 Deletion SNRNP200 STARD7-AS1 DUSP2 ANKRD36B LOC653924 ANKRD39 LMAN2L KANSL3 LOC105373495 MIR3127 ANKRD23 ASTL ARID5A NCAPH NEURL3 LOC100506076 FAM178B LOC107984110 LOC101927053 ADRA2B CIAO1 SEMA4C FAHD2CP ANKRD36C STARD7 GPAT2 ANKRD36 CNNM4 FER1L5 ITPRIPL1 CNNM3 TMEM127 FAHD2B LOC105373496 LOC100506123
          nsv508155 Chr.2:96268957 - 96472565 on Build GRCh38 Deletion SNRNP200 NCAPH ITPRIPL1 LOC105373495 CIAO1
          nsv1135873 Chr.2:95981454 - 97579645 on Build GRCh38 Deletion SNRNP200 STARD7-AS1 DUSP2 ANKRD36B LOC653924 ANKRD39 LMAN2L KANSL3 LOC105373495 MIR3127 ANKRD23 ASTL ARID5A NCAPH NEURL3 LOC100506076 FAM178B LOC107984110 LOC101927053 ADRA2B CIAO1 SEMA4C FAHD2CP ANKRD36C STARD7 GPAT2 ANKRD36 CNNM4 FER1L5 ITPRIPL1 CNNM3 TMEM127 FAHD2B LOC105373496 LOC100506123
          esv3425717 Chr.2:95859900 - 97515905 on Build GRCh38 Duplication SNRNP200 STARD7-AS1 DUSP2 ANKRD36B LOC653924 ANKRD39 LMAN2L KANSL3 LOC105373495 MIR3127 ANKRD23 ASTL ARID5A NCAPH NEURL3 LOC100506076 FAM178B LOC107984110 LOC101927053 ADRA2B CIAO1 SEMA4C FAHD2CP ANKRD36C STARD7 GPAT2 ANKRD36 CNNM4 FER1L5 ITPRIPL1 CNNM3 TMEM127 FAHD2B LOC105373496 LOC100506123

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          More Information


          Set Membership:

          Intragenic Exonic DGV Variation

          Panther Classification:

          Molecular Function -

          scaffold/adaptor protein

          Gene Ontology Categories:

          Function(s) Process(es)

          cis assembly of pre-catalytic spliceosome
          mRNA splicing, via spliceosome
          osteoblast differentiation
          ATP-dependent RNA helicase activity
          protein binding
          ATP binding
          ATP-dependent helicase activity
          identical protein binding
          poly(A) RNA binding

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