WormBase Tree Display for Variation: WBVar00248846

WBVar00248846 Evidence: Paper_evidence: WBPaper00003361
  Name: Public_name: su110
    Other_name: F14D12.2.1:c.900-1G>A
    HGVSg: CHROMOSOME_X:g.5594366G>A
  Sequence_details: SMap: S_parent: Sequence: F14D12
    Flanking_sequences: tgatgaaaacaaattaatgtatgcattgca aacgaaattctatgaattcgatatgaaacc
    Mapping_target: F14D12
    Type_of_mutation: Substitution: g a
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00006435
      WBStrain00008389
    Laboratory: HE
    Status: Live
  Affects: Gene: WBGene00006826
    Transcript: F14D12.2.1 VEP_consequence: splice_acceptor_variant
        VEP_impact: HIGH
        HGVSc: F14D12.2.1:c.900-1G>A
        Intron_number: 7/8
    Interactor: WBInteraction000525289
      WBInteraction000555302
  Genetics: Interpolated_map_position: X -4.48283
    Mapping_data: In_2_point: 396
        397
      In_multi_point: 1207
        5465
  Description: Phenotype: WBPhenotype:0001930 Paper_evidence: WBPaper00032907
        Curator_confirmed: WBPerson712
        Remark: Animals exhibit fewer dorsal and ventral muscle arms compared to controls. Paper_evidence: WBPaper00032907
            Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0001426 Paper_evidence: WBPaper00004883
        Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: arIs37 Paper_evidence: WBPaper00004883
              Curator_confirmed: WBPerson712
      WBPhenotype:0001652 Paper_evidence: WBPaper00032446
        Curator_confirmed: WBPerson2021
  Reference: WBPaper00032446
    WBPaper00004883
    WBPaper00032907
    WBPaper00025869
    WBPaper00015518
  Remark: This transition occurs in a highly conserved splice acceptor site Paper_evidence: WBPaper00003361
  Method: Substitution_allele