WormBase Tree Display for Variation: WBVar00094745

WBVar00094745 Evidence: Paper_evidence: WBPaper00026670
  Name: Public_name: or552
    Other_name: F41H10.11.1:c.934C>T
      CE31693:p.Gln312Ter
    HGVSg: CHROMOSOME_IV:g.5368225C>T
  Sequence_details: SMap: S_parent: Sequence: F41H10
    Flanking_sequences: gatcatttcgatgggctcaaggaagttcga aacaaattgtgacgaagttggaaaataatc
    Mapping_target: F41H10
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00028972
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00007458
    Laboratory: EU
    Status: Live
  Affects: Gene: WBGene00018321
    Transcript: F41H10.11.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F41H10.11.1:c.934C>T
        HGVSp: CE31693:p.Gln312Ter
        cDNA_position: 935
        CDS_position: 934
        Protein_position: 312
        Exon_number: 5/7
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
    Interactor: WBInteraction000009209
      WBInteraction000009210
      WBInteraction000009211
      WBInteraction000009212
      WBInteraction000051753
      WBInteraction000051754
      WBInteraction000502762
  Genetics: Interpolated_map_position: IV 1.59786
  Description: Phenotype (12)
    Phenotype_not_observed: WBPhenotype:0001425 Paper_evidence: WBPaper00028972
        Curator_confirmed: WBPerson48
        Remark: The lypophilic dye FM4-64 and VIT-2::GFP reveal accumulation in large, peripheral granules, indicating that endocytosis occurs, and that there are late defects in the endocytic pathway. Paper_evidence: WBPaper00028972
            Curator_confirmed: WBPerson48
  Reference: WBPaper00026670
    WBPaper00028972
  Method: Substitution_allele