WormBase Tree Display for Variation: WBVar02132647

WBVar02132647 Evidence: Paper_evidence: WBPaper00045317
  Name: Public_name: h6991
    Other_name: D2045.1a.1:c.2789-1G>A
      D2045.1d.1:c.3113-1G>A
      D2045.1b.1:c.1805-1G>A
      D2045.1c.1:c.2796G>A
      CE54097:p.Lys932=
    HGVSg: CHROMOSOME_III:g.10467311G>A
  Sequence_details: SMap: S_parent: Sequence: D2045
    Flanking_sequences: TTATAAAGTTCAAATTTCTAACCGTTTATGAAGCTTTGAA GTGTAAATCCATCTGGTCAACAATCTGGTCCACCACCACC
    Mapping_target: CHROMOSOME_III
    Source_location: 200 CHROMOSOME_III 10467198 10467198
    Type_of_mutation: Substitution: G A
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00023732
    Laboratory: KR
    Analysis: WGS_Rose
    Status: Live
  Affects: Gene: WBGene00000231
    Transcript: D2045.1d.1 VEP_consequence: splice_acceptor_variant
        VEP_impact: HIGH
        HGVSc: D2045.1d.1:c.3113-1G>A
        Intron_number: 11/11
      D2045.1b.1 VEP_consequence: splice_acceptor_variant
        VEP_impact: HIGH
        HGVSc: D2045.1b.1:c.1805-1G>A
        Intron_number: 7/7
      D2045.1a.1 VEP_consequence: splice_acceptor_variant
        VEP_impact: HIGH
        HGVSc: D2045.1a.1:c.2789-1G>A
        Intron_number: 12/13
      D2045.1c.1 VEP_consequence: synonymous_variant
        VEP_impact: LOW
        HGVSc: D2045.1c.1:c.2796G>A
        HGVSp: CE54097:p.Lys932=
        cDNA_position: 2796
        CDS_position: 2796
        Protein_position: 932
        Exon_number: 12/13
        Codon_change: aaG/aaA
        Amino_acid_change: K
  Reference: WBPaper00040589
    WBPaper00000975
    WBPaper00003985
    WBPaper00000699
    WBPaper00045317
  Method: WGS_Rose