WormBase Tree Display for Variation: WBVar00143061

WBVar00143061 Evidence: Paper_evidence: WBPaper00004985
  Name: Public_name: e245
    Other_name: ZC416.8a.1:c.1039G>C
      ZC416.8b.1:c.1-1285G>C
      CE17307:p.Gly347Arg
    HGVSg: CHROMOSOME_IV:g.3619060C>G
  Sequence_details: SMap: S_parent: Sequence: ZC416
    Flanking_sequences: gcgattgctatggttgggttggctatggag gaatcgcgtgttttgcaatcccctatacca
    Mapping_target: ZC416
    Type_of_mutation: Substitution: g m
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain (17)
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00006756
      WBGene00000481
    Transcript: ZC416.8a.1 (12)
      ZC416.8b.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: ZC416.8b.1:c.1-1285G>C
        Intron_number: 1/11
    Interactor: WBInteraction000518365
      WBInteraction000518556
      WBInteraction000518559
      WBInteraction000518561
      WBInteraction000518851
      WBInteraction000518855
      WBInteraction000519040
      WBInteraction000519045
      WBInteraction000519046
  Genetics: Interpolated_map_position: IV -3.11559
    Mapping_data: In_2_point: 103
        728
        1646
        1647
        2757
      In_multi_point (32)
  Description: Phenotype (14)
    Phenotype_not_observed: WBPhenotype:0000123 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: normal ChAT (choline acetyltransferase) levels Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000631 Paper_evidence: WBPaper00035198
        Curator_confirmed: WBPerson712
        Remark: Animals do not exhibit anterior convulsions when treated with pentylenetetrazole(PTZ). Paper_evidence: WBPaper00035198
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00004251 Paper_evidence: WBPaper00035198
              Curator_confirmed: WBPerson712
      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
      WBPhenotype:0001853 Paper_evidence: WBPaper00035150
        Curator_confirmed: WBPerson2021
        Remark: Mutant response to AAD 1470 was comparable to that observed in wild-type Paper_evidence: WBPaper00035150
            Curator_confirmed: WBPerson2021
  Reference (22)
  Remark: Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00006756 Missense 347 G to R
    Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00000481 Intron Inferred_automatically map_Alleles.pl
  Method: Substitution_allele