WormBase Tree Display for Variation: WBVar00144483

WBVar00144483 Evidence: Paper_evidence: WBPaper00002121
  Name: Public_name: e2014
    Other_name: CE52672:p.Ser81Leu
      CE52664:p.Ser81Leu
      Y47D3A.6a.1:c.242C>T
      Y47D3A.6b.1:c.242C>T
    HGVSg: CHROMOSOME_III:g.11191868G>A
  Sequence_details: SMap: S_parent: Sequence: Y47D3A
    Flanking_sequences: gtaatttcattcaaagctcagttcccccgt acatcaaactttgagcaatcctctgcagct
    Mapping_target: Y47D3A
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00002121
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00006604
      WBGene00305760
    Transcript: Y48A6C.12
      Y47D3A.6b.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: Y47D3A.6b.1:c.242C>T
        HGVSp: CE52664:p.Ser81Leu
        cDNA_position: 380
        CDS_position: 242
        Protein_position: 81
        Exon_number: 5/10
        Codon_change: tCa/tTa
        Amino_acid_change: S/L
      Y47D3A.6a.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: Y47D3A.6a.1:c.242C>T
        HGVSp: CE52672:p.Ser81Leu
        cDNA_position: 380
        CDS_position: 242
        Protein_position: 81
        Exon_number: 5/20
        Codon_change: tCa/tTa
        Amino_acid_change: S/L
  Genetics: Interpolated_map_position: III 6.94322
  Reference: WBPaper00002121
  Method: Substitution_allele