WormBase Tree Display for Variation: WBVar00095126

WBVar00095126 Evidence: Paper_evidence: WBPaper00024501
  Name: Public_name: p802
    Other_name: CE31568:p.Gln346Ter
      M02B7.3a.3:c.952C>T
      CE31567:p.Gln318Ter
      M02B7.3b.1:c.1036C>T
      M02B7.3a.2:c.952C>T
      M02B7.3a.1:c.952C>T
    HGVSg: CHROMOSOME_IV:g.3797722G>A
  Sequence_details: SMap: S_parent: Sequence: M02B7
    Flanking_sequences: gatccaaaggatgctcttcttcgagagtac aggaggaaatcgctcggctcaagtctatgg
    Mapping_target: M02B7
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00024501
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00030794
      WBStrain00049023
    Laboratory: PR
    Status: Live
  Affects: Gene: WBGene00003884
    Transcript: M02B7.3a.3 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: M02B7.3a.3:c.952C>T
        HGVSp: CE31567:p.Gln318Ter
        cDNA_position: 1196
        CDS_position: 952
        Protein_position: 318
        Exon_number: 6/11
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      M02B7.3a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: M02B7.3a.1:c.952C>T
        HGVSp: CE31567:p.Gln318Ter
        cDNA_position: 1050
        CDS_position: 952
        Protein_position: 318
        Exon_number: 7/12
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      M02B7.3a.2 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: M02B7.3a.2:c.952C>T
        HGVSp: CE31567:p.Gln318Ter
        cDNA_position: 1641
        CDS_position: 952
        Protein_position: 318
        Exon_number: 7/12
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      M02B7.3b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: M02B7.3b.1:c.1036C>T
        HGVSp: CE31568:p.Gln346Ter
        cDNA_position: 1036
        CDS_position: 1036
        Protein_position: 346
        Exon_number: 6/10
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
    Interactor: WBInteraction000521350
  Genetics: Interpolated_map_position: IV -2.21234
    Mapping_data: In_2_point: 364
        365
      In_multi_point: 900
        903
        906
        962
      In_pos_neg_data: 1630
        1631
  Description: Phenotype (33)
    Phenotype_not_observed (13)
  Reference: WBPaper00014409
    WBPaper00000932
    WBPaper00024698
    WBPaper00031936
    WBPaper00024501
    WBPaper00027116
    WBPaper00028448
    WBPaper00029016
    WBPaper00006052
    WBPaper00002087
    WBPaper00001786
    WBPaper00029060
    WBPaper00003464
    WBPaper00031959
    WBPaper00017262
    WBPaper00028386
    WBPaper00019253
    WBPaper00017254
    WBPaper00017486
    WBPaper00022231
    WBPaper00014247
    WBPaper00010097
    WBPaper00025332
    WBPaper00000082
    WBPaper00016862
    WBPaper00036362
    WBPaper00035944
    WBPaper00020968
    WBPaper00015123
    WBPaper00000552
    WBPaper00013784
    WBPaper00045085
    WBPaper00055368
    WBPaper00003408
    WBPaper00061175
    WBPaper00060242
    WBPaper00061932
    WBPaper00065813
  Remark: Variation stub/paper connection generated from the May 2021 NN VFP dataset.
    Created by WBPerson51134 from the NN_VFP_triage_pipeline
  Method: Substitution_allele