WormBase Tree Display for Variation: WBVar02146332

WBVar02146332 Evidence: Paper_evidence: WBPaper00041713
  Name: Public_name: wr3
    Other_name: CE40074:p.Ser383Phe
      F56D12.1b.1:c.*597C>T
      F56D12.1d.1:c.1148C>T
      CE29047:p.Ser523Phe
      F56D12.1a.2:c.1568C>T
      F56D12.1a.1:c.1568C>T
    HGVSg: CHROMOSOME_II:g.1306509G>A
  Sequence_details: SMap: S_parent: Sequence: F56D12
    Flanking_sequences: ccggccttatcattggttccggacaatctg agcctccgaatggctgctggccgacgattg
    Mapping_target: F56D12
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00041713
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: UQ
    Status: Live
  Affects: Gene: WBGene00000112
    Transcript: F56D12.1b.1 VEP_consequence: 3_prime_UTR_variant
        VEP_impact: MODIFIER
        HGVSc: F56D12.1b.1:c.*597C>T
        cDNA_position: 2138
        Exon_number: 8/8
      F56D12.1a.2 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: F56D12.1a.2:c.1568C>T
        HGVSp: CE29047:p.Ser523Phe
        cDNA_position: 1667
        CDS_position: 1568
        Protein_position: 523
        Exon_number: 9/10
        Codon_change: tCc/tTc
        Amino_acid_change: S/F
      F56D12.1a.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: F56D12.1a.1:c.1568C>T
        HGVSp: CE29047:p.Ser523Phe
        cDNA_position: 1571
        CDS_position: 1568
        Protein_position: 523
        Exon_number: 8/9
        Codon_change: tCc/tTc
        Amino_acid_change: S/F
      F56D12.1d.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: F56D12.1d.1:c.1148C>T
        HGVSp: CE40074:p.Ser383Phe
        cDNA_position: 1148
        CDS_position: 1148
        Protein_position: 383
        Exon_number: 4/4
        Codon_change: tCc/tTc
        Amino_acid_change: S/F
  Genetics: Interpolated_map_position: II -15.5103
  Description: Phenotype: WBPhenotype:0002382 Paper_evidence: WBPaper00041713
        Curator_confirmed: WBPerson151
        Remark: resistant to phosphine gas Paper_evidence: WBPaper00041713
            Curator_confirmed: WBPerson151
        Affected_by: Molecule: WBMol:00004744 Paper_evidence: WBPaper00041713
              Curator_confirmed: WBPerson151
  Reference: WBPaper00041713
  Method: Substitution_allele