WormBase Tree Display for Variation: WBVar02138578

WBVar02138578 Evidence: Paper_evidence: WBPaper00045317
  Name: Public_name: h10979
    Other_name: F57C12.4.1:c.593C>T
      CE26370:p.Ser198Phe
    HGVSg: CHROMOSOME_X:g.570669G>A
  Sequence_details: SMap: S_parent: Sequence: F57C12
    Flanking_sequences: TGTGCGTCACAAACTCCAACTTACACTTTTGTACATGTCA ATGGTACATCTGCAAAACAACACAGGAACAACTCCAATGC
    Mapping_target: CHROMOSOME_X
    Source_location: 200 CHROMOSOME_X 570671 570671
    Type_of_mutation: Substitution: G A
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00023758
    Laboratory: KR
    Analysis: WGS_Rose
    Status: Live
  Affects: Gene: WBGene00003408
    Transcript: F57C12.4.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: F57C12.4.1:c.593C>T
        HGVSp: CE26370:p.Ser198Phe
        cDNA_position: 651
        CDS_position: 593
        Protein_position: 198
        Exon_number: 5/20
        Codon_change: tCt/tTt
        Amino_acid_change: S/F
  Reference: WBPaper00040589
    WBPaper00000975
    WBPaper00003985
    WBPaper00000699
    WBPaper00045317
  Method: WGS_Rose