WormBase Tree Display for Variation: WBVar00143000

WBVar00143000 Evidence: Paper_evidence: WBPaper00003350
  Name: Public_name: e156
    Other_name (6)
    HGVSg: CHROMOSOME_III:g.12948395G>A
  Sequence_details: SMap: S_parent: Sequence: Y37D8A
    Flanking_sequences: acaatgatgttttcaagctttggttgatgt gaagagcaagggaatggagggatatcgtca
    Mapping_target: Y37D8A
    Type_of_mutation: Substitution: G A Paper_evidence: WBPaper00003350
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain (22)
    Laboratory: CB
      OJ
    Status: Live
  Affects: Gene: WBGene00006762
    Transcript: Y37D8A.23c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y37D8A.23c.1:c.923G>A
        HGVSp: CE32012:p.Trp308Ter
        cDNA_position: 923
        CDS_position: 923
        Protein_position: 308
        Exon_number: 4/6
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
      Y37D8A.23b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y37D8A.23b.1:c.1148G>A
        HGVSp: CE31832:p.Trp383Ter
        cDNA_position: 1148
        CDS_position: 1148
        Protein_position: 383
        Exon_number: 6/9
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
      Y37D8A.23a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y37D8A.23a.1:c.1148G>A
        HGVSp: CE20226:p.Trp383Ter
        cDNA_position: 1158
        CDS_position: 1148
        Protein_position: 383
        Exon_number: 7/10
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
    Interactor: WBInteraction000001428
      WBInteraction000517365
      WBInteraction000517573
      WBInteraction000555296
      WBInteraction000558065
      WBInteraction000558066
  Genetics: Interpolated_map_position: III 20.6631
    Mapping_data: In_2_point: 57
        68
        78
        6019
        6109
        7009
        7010
      In_multi_point: 93
        1505
        1658
        1659
        1661
        2027
        2028
        2033
        2115
        2116
        2117
        2118
        2119
        2120
        2122
        2212
        2236
        2249
        2250
        3053
        3054
        3055
        3056
        3057
        3108
        3114
        3236
        3248
        3262
        3263
        3264
        3266
      In_pos_neg_data: 354
  Description: Phenotype (22)
    Phenotype_not_observed: WBPhenotype:0001426 Paper_evidence: WBPaper00004883
        Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: arIs37 Paper_evidence: WBPaper00004883
              Curator_confirmed: WBPerson712
      WBPhenotype:0001645 Paper_evidence: WBPaper00040284
        Curator_confirmed: WBPerson2987
        Remark: Table S2 Paper_evidence: WBPaper00040284
            Curator_confirmed: WBPerson2987
  Disease_info: Models_disease: DOID:1826
    Models_disease_in_annotation: WBDOannot00000549
  Reference (23)
  Method: Substitution_allele