WormBase Tree Display for Variation: WBVar00275538

WBVar00275538 Evidence: Paper_evidence: WBPaper00036734
  Name: Public_name: zu278
    Other_name (11)
    HGVSg: CHROMOSOME_V:g.11848847C>T
  Sequence_details: SMap: S_parent: Sequence: R13H4
    Flanking_sequences: tatttgtcacaaatcactctatattgtcag aactgaatatttgtagtaaggtgagttttt
    Mapping_target: R13H4
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00036734
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00022476
    Laboratory: JJ
    Status: Live
  Affects: Gene: WBGene00001978
    Transcript: R13H4.4e.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: R13H4.4e.1:c.2383C>T
        HGVSp: CE47707:p.Gln795Ter
        cDNA_position: 2383
        CDS_position: 2383
        Protein_position: 795
        Exon_number: 5/7
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      R13H4.4d.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: R13H4.4d.1:c.2383C>T
        HGVSp: CE47696:p.Gln795Ter
        cDNA_position: 2390
        CDS_position: 2383
        Protein_position: 795
        Exon_number: 6/11
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      R13H4.4a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: R13H4.4a.1:c.2383C>T
        HGVSp: CE25089:p.Gln795Ter
        cDNA_position: 2384
        CDS_position: 2383
        Protein_position: 795
        Exon_number: 6/10
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      R13H4.4f.2 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: R13H4.4f.2:c.2383C>T
        HGVSp: CE47738:p.Gln795Ter
        cDNA_position: 2383
        CDS_position: 2383
        Protein_position: 795
        Exon_number: 5/9
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      R13H4.4b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: R13H4.4b.1:c.2383C>T
        HGVSp: CE40995:p.Gln795Ter
        cDNA_position: 2384
        CDS_position: 2383
        Protein_position: 795
        Exon_number: 6/10
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      R13H4.4f.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: R13H4.4f.1:c.2383C>T
        HGVSp: CE47738:p.Gln795Ter
        cDNA_position: 2384
        CDS_position: 2383
        Protein_position: 795
        Exon_number: 6/9
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
    Interactor: WBInteraction000501918
      WBInteraction000501919
      WBInteraction000518815
  Isolation: Mutagen: EMS
  Genetics: Interpolated_map_position: V 3.46382
    Mapping_data: In_multi_point: 4408
  Description: Phenotype: WBPhenotype:0000436 Paper_evidence: WBPaper00032115
        Curator_confirmed: WBPerson712
        Remark: ZOO-1 localization appeared largely unaffected, as assayed by immunostaining (data not shown). Paper_evidence: WBPaper00032115
            Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00032115
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00032115
                Curator_confirmed: WBPerson712
      WBPhenotype:0001908 Paper_evidence: WBPaper00049309
        Curator_confirmed: WBPerson486
  Reference: WBPaper00027244
    WBPaper00032115
    WBPaper00036734
    WBPaper00049309
  Method: Substitution_allele