WormBase Tree Display for Variation: WBVar00253089

WBVar00253089 Evidence: Paper_evidence: WBPaper00031871
  Name: Public_name: tr75
    Other_name: CE28820:p.Ser1010Leu
      CE31165:p.Ser1010Leu
      C48A7.1b.1:c.3028_3029delinsCT
      C48A7.1a.1:c.3028_3029delinsCT
    HGVSg: CHROMOSOME_IV:g.7411894_7411895delinsCT
  Sequence_details: SMap: S_parent: Sequence: C48A7
    Flanking_sequences: ggagatgcgatgatttcacttttcgtagtt aactttcgaaggatggccacaacttcttta
    Mapping_target: C48A7
    Type_of_mutation: Substitution: tc ct Paper_evidence: WBPaper00031871
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: RP
    Status: Live
  Affects: Gene: WBGene00001187
    Transcript: C48A7.1a.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: C48A7.1a.1:c.3028_3029delinsCT
        HGVSp: CE28820:p.Ser1010Leu
        cDNA_position: 3028-3029
        CDS_position: 3028-3029
        Protein_position: 1010
        Exon_number: 9/17
        Codon_change: TCa/CTa
        Amino_acid_change: S/L
      C48A7.1b.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: C48A7.1b.1:c.3028_3029delinsCT
        HGVSp: CE31165:p.Ser1010Leu
        cDNA_position: 3028-3029
        CDS_position: 3028-3029
        Protein_position: 1010
        Exon_number: 9/18
        Codon_change: TCa/CTa
        Amino_acid_change: S/L
  Genetics: Interpolated_map_position: IV 3.33451
  Description: Phenotype: WBPhenotype:0000011 Paper_evidence: WBPaper00031871
        Curator_confirmed: WBPerson712
        Remark: Animals were resistant to population growth retardation induced by nemadipine-A, a dihydropyridine (DHP) analog. Paper_evidence: WBPaper00031871
            Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Animals were treated with various concentrations of nemadipine in DMSO. Paper_evidence: WBPaper00031871
              Curator_confirmed: WBPerson712
  Reference: WBPaper00031871
  Method: Substitution_allele