WormBase Tree Display for Variation: WBVar02129134

WBVar02129134 Evidence: Paper_evidence: WBPaper00045317
  Name: Public_name: h15394
    Other_name: F32A7.6.1:c.333+115G>A
      F32A7.7.1:c.947C>T
      CE15940:p.Ser316Leu
    HGVSg: CHROMOSOME_I:g.14854507C>T
  Sequence_details: SMap: S_parent: Sequence: F32A7
    Flanking_sequences: GAAACAATGAAATAATTGATTTTTTTTATAGATTTCTACT GAAAATTCTTCGAAGACAGCCACCCAGTACTATTGTGCGA
    Mapping_target: CHROMOSOME_I
    Source_location: 200 CHROMOSOME_I 14854494 14854494
    Type_of_mutation: Substitution: C T
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00023766
    Laboratory: KR
    Analysis: WGS_Rose
    Status: Live
  Affects: Gene: WBGene00006272
      WBGene00000088
    Transcript: F32A7.6.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: F32A7.6.1:c.333+115G>A
        Intron_number: 3/9
      F32A7.7.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: F32A7.7.1:c.947C>T
        HGVSp: CE15940:p.Ser316Leu
        cDNA_position: 947
        CDS_position: 947
        Protein_position: 316
        Exon_number: 6/7
        Codon_change: tCg/tTg
        Amino_acid_change: S/L
  Reference: WBPaper00040589
    WBPaper00000975
    WBPaper00003985
    WBPaper00000699
    WBPaper00045317
  Method: WGS_Rose