WormBase Tree Display for Variation: WBVar02140245

WBVar02140245 Evidence: Paper_evidence: WBPaper00045317
  Name: Public_name: h11992
    Other_name: F17A2.16.1:c.722C>T
      CE52819:p.Ser241Phe
    HGVSg: CHROMOSOME_X:g.12309213C>T
  Sequence_details: SMap: S_parent: Sequence: F17A2
    Flanking_sequences: CCAATGTCTTCACCGGAAGATTATTTGATTCACACTGCCT CCATATAATTTATAGACAGGTGGCAGAACTAGCAAAAAGT
    Mapping_target: CHROMOSOME_X
    Source_location: 200 CHROMOSOME_X 12309136 12309136
    Type_of_mutation: Substitution: C T
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00023743
    Laboratory: KR
    Analysis: WGS_Rose
    Status: Live
  Affects: Gene: WBGene00304215
    Transcript: F17A2.16.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: F17A2.16.1:c.722C>T
        HGVSp: CE52819:p.Ser241Phe
        cDNA_position: 722
        CDS_position: 722
        Protein_position: 241
        Exon_number: 2/4
        Codon_change: tCc/tTc
        Amino_acid_change: S/F
  Reference: WBPaper00040589
    WBPaper00000975
    WBPaper00003985
    WBPaper00000699
    WBPaper00045317
  Method: WGS_Rose