WormBase Tree Display for Variation: WBVar00085575

WBVar00085575 Evidence: Paper_evidence: WBPaper00040707
  Name: Public_name: WBVar00085575
    Other_name: haw109935
      oicr_ce2129
      cewivar00062566
      Y16B4A.2.1:c.2396C>T
      CE48023:p.Ser799Phe
    HGVSg: CHROMOSOME_X:g.14767711G>A
  Sequence_details: SMap: S_parent: Sequence: C05G5
    Flanking_sequences: ttgcttgttggatttggaggatgag aagaagaagaactagcagatgtggt
    Mapping_target: C05G5
    Type_of_mutation: Substitution: G A
    SeqStatus: Sequenced
  Variation_type: SNP
    Predicted_SNP
    Natural_variant
  Origin: Species: Caenorhabditis elegans
    Strain (48)
    Laboratory: RW
      QX
    Person: WBPerson1562
      WBPerson1730
    Analysis: WGS_Hawaiian_Waterston
      WGS_Stein
      Million_mutation_project_reanalysis
      WGS_Andersen
    History: Acquires_merge: WBVar00603710
        WBVar01472670
    Status: Live
  Affects: Gene: WBGene00012445
    Transcript: Y16B4A.2.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: Y16B4A.2.1:c.2396C>T
        HGVSp: CE48023:p.Ser799Phe
        cDNA_position: 2423
        CDS_position: 2396
        Protein_position: 799
        Exon_number: 15/37
        Codon_change: tCc/tTc
        Amino_acid_change: S/F
  Reference: WBPaper00040707
  Remark: [20081124 db] this Variation was previously named hw109935
  Method: WGS_Hawaiian_Waterston