WormBase Tree Display for Variation: WBVar00248885

WBVar00248885 Evidence: Paper_evidence: WBPaper00001404
  Name: Public_name: sy5
    Other_name: ZK1067.1c.1:c.3249G>A
      ZK1067.1b.1:c.3051G>A
      CE42910:p.Trp1083Ter
      ZK1067.1d.1:c.3270G>A
      ZK1067.1a.1:c.3234G>A
      CE50411:p.Trp1090Ter
      CE03840:p.Trp1078Ter
      CE42891:p.Trp1017Ter
    HGVSg: CHROMOSOME_II:g.9205776G>A
  Sequence_details: SMap: S_parent: Sequence: ZK1067
    Flanking_sequences: ctgatgtttgggcatttggagtcacatgttg gagattataacatttggacaaagtccgtat
    Mapping_target: ZK1067
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00001917
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: PS
    Status: Live
  Affects: Gene: WBGene00002299
    Transcript: ZK1067.1d.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK1067.1d.1:c.3270G>A
        HGVSp: CE50411:p.Trp1090Ter
        cDNA_position: 3276
        CDS_position: 3270
        Protein_position: 1090
        Exon_number: 17/21
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      ZK1067.1b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK1067.1b.1:c.3051G>A
        HGVSp: CE42891:p.Trp1017Ter
        cDNA_position: 3051
        CDS_position: 3051
        Protein_position: 1017
        Exon_number: 13/16
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      ZK1067.1c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK1067.1c.1:c.3249G>A
        HGVSp: CE42910:p.Trp1083Ter
        cDNA_position: 3249
        CDS_position: 3249
        Protein_position: 1083
        Exon_number: 15/19
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      ZK1067.1a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK1067.1a.1:c.3234G>A
        HGVSp: CE03840:p.Trp1078Ter
        cDNA_position: 3323
        CDS_position: 3234
        Protein_position: 1078
        Exon_number: 16/20
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
  Isolation: Mutagen: EMS Person_evidence: WBPerson566
  Genetics: Interpolated_map_position: II 1.09463
  Description: Phenotype: WBPhenotype:0000062 Paper_evidence: WBPaper00001404
        Curator_confirmed: WBPerson712
        Remark: Identified in a noncomplementation screen with let-23(sy1) scoring for the Vulvaless phenotype. Paper_evidence: WBPaper00001404
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00001404
          Curator_confirmed: WBPerson712
      WBPhenotype:0000411 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: similar to sy15 Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
  Reference: WBPaper00001404
    WBPaper00001917
  Remark
  Method: Substitution_allele