WormBase Tree Display for Variation: WBVar02126874

WBVar02126874 Evidence: Paper_evidence: WBPaper00045317
  Name: Public_name: h14092
    Other_name (20)
    HGVSg: CHROMOSOME_I:g.3381550G>A
  Sequence_details: SMap: S_parent: Sequence: W05F2
    Flanking_sequences: ATTCTCAAATATTTGCTCTAAAAACGCTACCTGTTGCAAA GCTTGCTCTTCGAAGTTTCAGACGTCTTCTGTCGAACCGT
    Mapping_target: CHROMOSOME_I
    Source_location: 200 CHROMOSOME_I 3381551 3381551
    Type_of_mutation: Substitution: G A
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00023854
    Laboratory: KR
    Analysis: WGS_Rose
    Status: Live
  Affects: Gene: WBGene00021036
    Transcript: W05F2.4h.1 (11)
      W05F2.4a.1 (11)
      W05F2.4i.1 (11)
      W05F2.4f.1 (11)
      W05F2.4b.1 (12)
      W05F2.4g.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: W05F2.4g.1:c.3761C>T
        HGVSp: CE54423:p.Pro1254Leu
        cDNA_position: 3761
        CDS_position: 3761
        Protein_position: 1254
        Exon_number: 27/35
        Codon_change: cCt/cTt
        Amino_acid_change: P/L
      W05F2.4d.1 (12)
      W05F2.4k.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: W05F2.4k.1:c.3725C>T
        HGVSp: CE54410:p.Pro1242Leu
        cDNA_position: 3725
        CDS_position: 3725
        Protein_position: 1242
        Exon_number: 27/35
        Codon_change: cCt/cTt
        Amino_acid_change: P/L
      W05F2.4j.1 (11)
      W05F2.4e.1 (11)
  Reference: WBPaper00040589
    WBPaper00000975
    WBPaper00003985
    WBPaper00000699
    WBPaper00045317
  Method: WGS_Rose