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: 96
        101
        104
        275
        455
        456
        457
        458
        459
        460
        461
        462
        463
        464
        465
        466
        596
        610
        623
        684
        691
        742
        900
        901
        904
        1127
        1132
        1517
        1523
        3063
        3132
        5675
  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