WormBase Tree Display for Variation: WBVar02140868

WBVar02140868 Evidence: Paper_evidence: WBPaper00045317
  Name: Public_name: h3901
    Other_name: CE53517:p.Ser18Phe
      T01B4.2a.1:c.53C>T
      T01B4.2b.1:c.36-416C>T
    HGVSg: CHROMOSOME_X:g.16308492C>T
  Sequence_details: SMap: S_parent: Sequence: T01B4
    Flanking_sequences: ACTTTTATTCTGCACTCTGCAGACACTGAGTCTGTGATTT CGATGATGATTCATCTTATTATTTTGATGGTAGTGTCGAG
    Mapping_target: CHROMOSOME_X
    Source_location: 200 CHROMOSOME_X 16308410 16308410
    Type_of_mutation: Substitution: C T
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00023877
    Laboratory: KR
    Analysis: WGS_Rose
    Status: Live
  Affects: Gene: WBGene00006675
    Transcript: T01B4.2a.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: T01B4.2a.1:c.53C>T
        HGVSp: CE53517:p.Ser18Phe
        cDNA_position: 129
        CDS_position: 53
        Protein_position: 18
        Exon_number: 2/15
        Codon_change: tCc/tTc
        Amino_acid_change: S/F
      T01B4.2b.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: T01B4.2b.1:c.36-416C>T
        Intron_number: 2/14
  Reference: WBPaper00040589
    WBPaper00000975
    WBPaper00003985
    WBPaper00000699
    WBPaper00045317
  Method: WGS_Rose