WormBase Tree Display for Variation: WBVar00145064

WBVar00145064 Evidence: Paper_evidence: WBPaper00006130
  Name: Public_name: eb9
    Other_name: ZC404.3a.1:c.1000C>T
      ZC404.3b.1:c.*738C>T
      CE07594:p.Arg334Ter
      ZC404.3b.2:c.*738C>T
    HGVSg: CHROMOSOME_V:g.6786857C>T
  Sequence_details: SMap: S_parent: Sequence: ZC404
    Flanking_sequences: atggatgctggagataaaggagaacatttc gaaagtttccaaaaaccagctctctaattg
    Mapping_target: ZC404
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00006130
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00034097
    Laboratory: SL
    Status: Live
  Affects: Gene: WBGene00004975
    Transcript: ZC404.3b.1 VEP_consequence: 3_prime_UTR_variant
        VEP_impact: MODIFIER
        HGVSc: ZC404.3b.1:c.*738C>T
        cDNA_position: 1027
        Exon_number: 8/11
      ZC404.3a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZC404.3a.1:c.1000C>T
        HGVSp: CE07594:p.Arg334Ter
        cDNA_position: 1034
        CDS_position: 1000
        Protein_position: 334
        Exon_number: 7/11
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      ZC404.3b.2 VEP_consequence: 3_prime_UTR_variant
        VEP_impact: MODIFIER
        HGVSc: ZC404.3b.2:c.*738C>T
        cDNA_position: 1033
        Exon_number: 8/10
    Interactor: WBInteraction000504542
  Genetics: Interpolated_map_position: V 0.263677
  Description: Phenotype: WBPhenotype:0001423 Paper_evidence: WBPaper00032464
        Curator_confirmed: WBPerson725
        Remark: accumulates more yolk granules than the wild type control suggesting that processing is defective Paper_evidence: WBPaper00032464
            Curator_confirmed: WBPerson725
          coelomocytes in spe-39(eb9) accumulate more yolk than the wild type control suggesting defects in yolk degradation Paper_evidence: WBPaper00032464
            Curator_confirmed: WBPerson725
        Phenotype_assay: Genotype: bIs1 [Pvit-2::VIT-2::GFP; rol-6(su1006)] Paper_evidence: WBPaper00032464
              Curator_confirmed: WBPerson725
  Reference: WBPaper00006130
    WBPaper00032464
  Method: Substitution_allele