WormBase Tree Display for Variation: WBVar00088400

WBVar00088400 Evidence: Paper_evidence: WBPaper00002892
  Name: Public_name: ky51
    Other_name: CE07832:p.Pro70Ser
      C02C6.1a.1:c.208C>T
      CE07833:p.Pro70Ser
      C02C6.1b.1:c.208C>T
    HGVSg: CHROMOSOME_X:g.15569193C>T
  Sequence_details: SMap: S_parent: Sequence: C02C6
    Flanking_sequences: ccacgtggatcaggaatcgtaacacgtcgt cacttattttgcagcttattcaagatcgca
    Mapping_target: C02C6
    Type_of_mutation: Substitution: c t
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00005217
    Laboratory: CX
    Status: Live
  Affects: Gene: WBGene00001130
      WBGene00305252
    Transcript: C02C6.1b.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: C02C6.1b.1:c.208C>T
        HGVSp: CE07832:p.Pro70Ser
        cDNA_position: 208
        CDS_position: 208
        Protein_position: 70
        Exon_number: 2/8
        Codon_change: Cca/Tca
        Amino_acid_change: P/S
      C02C6.1a.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: C02C6.1a.1:c.208C>T
        HGVSp: CE07833:p.Pro70Ser
        cDNA_position: 208
        CDS_position: 208
        Protein_position: 70
        Exon_number: 2/10
        Codon_change: Cca/Tca
        Amino_acid_change: P/S
      C02C6.16
    Interactor (12)
  Genetics: Interpolated_map_position: X 22.8498
  Description (2)
  Disease_info: Models_disease: DOID:0050709
    Models_disease_in_annotation: WBDOannot00000798
  Reference (12)
  Remark: missense, pro70 to ser within GTPase domain. email11 from wen chen
  Method: Substitution_allele