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          • › Search Tool
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          • › Hs00865740_cn
          See other RTEL1 CNV Assays ›
          Gene Symbol
          RTEL1
          Assay Reference Genome
          Location

          Chr.20:63688049 on build GRCh38
          Cytoband
          20q13.33
          Assay ID Hs00865740_cn
          Size
          Availability Made To Order
          Catalog # 4400291
          Price
          Your 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:

          51750

          Gene Name:

          regulator of telomere elongation helicase 1

          Gene Aliases:

          C20orf41, DKCA4, DKCB5, NHL, PFBMFT3, RTEL

          Location:

          Chr.20:63657810-63696253 on Build GRCh38

          Assay Gene Location:

          Overlaps Exon 18 - Intron 18
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          RTEL1 NM_001283009.1 NP_001269938.1
          NM_001283010.1 NP_001269939.1
          NM_016434.3 NP_057518.1
          NM_032957.4 NP_116575.3
          AF217795.1 AAF33687.1
          AK299332.1
          AK302508.1
          AK304798.1
          JX119186.1

          Target Gene Details

          Entrez Gene ID:

          100533107

          Gene Name:

          RTEL1-TNFRSF6B readthrough (NMD candidate)

          Gene Aliases:

          -

          Location:

          Chr.20:63657810-63698698 on Build GRCh38

          Assay Gene Location:

          Overlaps Exon 18 - Intron 18
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          RTEL1-TNFRSF6B NR_037882.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2016-05-15, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          dgv7676n54 Chr.20:63686867 - 63702868 on Build GRCh38 Loss RTEL1-TNFRSF6B ARFRP1 TNFRSF6B RTEL1
          nsv953308 Chr.20:63650148 - 63831847 on Build GRCh38 Deletion STMN3 RTEL1-TNFRSF6B SLC2A4RG ZBTB46 ARFRP1 LIME1 ZGPAT ZBTB46-AS1 TNFRSF6B RTEL1
          nsv1160690 Chr.20:63639552 - 63744287 on Build GRCh38 Deletion STMN3 RTEL1-TNFRSF6B SLC2A4RG ZBTB46 ARFRP1 LIME1 ZGPAT TNFRSF6B RTEL1
          nsv3449 Chr.20:63675224 - 63696622 on Build GRCh38 Insertion RTEL1-TNFRSF6B RTEL1
          nsv428381 Chr.20:63583375 - 64334167 on Build GRCh38 Gain+Loss PRPF6 UCKL1 SLC2A4RG ZBTB46 LIME1 MIR647 LKAAEAR1 MIR941-5 ZNF512B UCKL1-AS1 PCMTD2 MIR941-4 MIR941-3 RTEL1-TNFRSF6B TCEA2 TPD52L2 ZBTB46-AS1 OPRL1 MIR1914 MIR6813 TNFRSF6B RTEL1 C20orf181 ARFRP1 ZGPAT SOX18 MYT1 MIR941-2 GMEB2 NPBWR2 LINC00266-1 STMN3 ABHD16B RGS19 SAMD10 LINC00176 MIR941-1 LOC100505771 DNAJC5
          nsv586611 Chr.20:63680946 - 63709340 on Build GRCh38 Loss RTEL1-TNFRSF6B ARFRP1 ZGPAT TNFRSF6B RTEL1
          nsv470563 Chr.20:63486715 - 63793308 on Build GRCh38 Loss EEF1A2 SLC2A4RG PPDPF ZBTB46 ARFRP1 LIME1 ZGPAT FNDC11 GMEB2 HELZ2 PTK6 SRMS STMN3 RTEL1-TNFRSF6B TNFRSF6B LOC100505771 RTEL1
          esv2758806 Chr.20:63470996 - 63745014 on Build GRCh38 Gain+Loss EEF1A2 SLC2A4RG PPDPF ZBTB46 ARFRP1 LIME1 ZGPAT FNDC11 KCNQ2 GMEB2 HELZ2 PTK6 SRMS STMN3 RTEL1-TNFRSF6B TNFRSF6B LOC100505771 RTEL1

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          More Information


          Set Membership:

          Intragenic Non-exonic DGV Variation

          Panther Classification:

          Molecular Function -

          DNA helicase

          Gene Ontology Categories:

          Function(s) Process(es)

          telomere maintenance
          strand displacement
          DNA repair
          regulation of double-strand break repair via homologous recombination
          replication fork processing
          positive regulation of telomere maintenance
          DNA duplex unwinding
          telomere maintenance in response to DNA damage
          telomeric loop disassembly
          mitotic telomere maintenance via semi-conservative replication
          positive regulation of telomere capping
          positive regulation of telomere maintenance via telomere lengthening
          negative regulation of t-circle formation
          negative regulation of telomere maintenance in response to DNA damage
          positive regulation of telomeric loop disassembly
          DNA binding
          ATP-dependent DNA helicase activity
          protein binding
          ATP binding
          metal ion binding
          4 iron, 4 sulfur cluster binding

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