WormBase Tree Display for Variation: WBVar00142961

WBVar00142961 Evidence: Paper_evidence: WBPaper00004891
  Name: Public_name: e102
    Other_name: T10A3.1a.1:c.2207+1G>A
      T10A3.1d.1:c.2162+1G>A
      T10A3.1f.1:c.2162+1G>A
      T10A3.1b.1:c.2207+1G>A
      T10A3.1e.1:c.2168+1G>A
      T10A3.1c.1:c.2168+1G>A
    HGVSg: CHROMOSOME_X:g.7275968C>T
  Sequence_details: SMap: S_parent: Sequence: T10A3
    Flanking_sequences: tgtcgagctgattgttagtaggagtgcaat taaatatacattttatttttaaactctgtc
    Mapping_target: T10A3
    Type_of_mutation: Substitution: g a
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004100
      WBStrain00005508
      WBStrain00005509
      WBStrain00027194
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00006750
    Transcript: T10A3.1c.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: T10A3.1c.1:c.2168+1G>A
        Intron_number: 16/28
      T10A3.1d.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: T10A3.1d.1:c.2162+1G>A
        Intron_number: 16/27
      T10A3.1e.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: T10A3.1e.1:c.2168+1G>A
        Intron_number: 16/27
      T10A3.1b.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: T10A3.1b.1:c.2207+1G>A
        Intron_number: 15/27
      T10A3.1a.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: T10A3.1a.1:c.2207+1G>A
        Intron_number: 16/27
      T10A3.1f.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: T10A3.1f.1:c.2162+1G>A
        Intron_number: 16/26
  Isolation: Mutagen: EMS
  Genetics: Interpolated_map_position: X -1.78183
    Mapping_data: In_2_point: 147
        182
        3912
        3913
        6198
      In_multi_point (13)
      In_pos_neg_data (13)
  Description: Phenotype (30)
    Phenotype_not_observed: WBPhenotype:0000436 Paper_evidence: WBPaper00028886
        Curator_confirmed: WBPerson48
        Remark: Localization of the synaptic protein SNB-1 is normal, based on expression analysis of SNB-1::VENUS. Paper_evidence: WBPaper00028886
            Curator_confirmed: WBPerson48
  Reference: WBPaper00043908
    WBPaper00035074
    WBPaper00001709
    WBPaper00028886
    WBPaper00015500
    WBPaper00000031
    WBPaper00002487
    WBPaper00015253
    WBPaper00045955
    WBPaper00048427
  Method: Substitution_allele