WormBase Tree Display for Variation: WBVar01474229

WBVar01474229 Evidence: Paper_evidence: WBPaper00042132
  Name: Public_name: kp1
    Other_name: CE39854:p.Gln185Ter
      Y20F4.3a.1:c.1546C>T
      CE44723:p.Gln516Ter
      Y20F4.3b.1:c.553C>T
    HGVSg: CHROMOSOME_I:g.1996172G>A
  Sequence_details: SMap: S_parent: Sequence: Y51F10
    Flanking_sequences: ggaacaatatcagttggtgaacccaactct aagtatcaatattatcaattgaaattgata
    Mapping_target: Y51F10
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00042132
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00022166
    Laboratory: IT
    Status: Live
  Affects: Gene: WBGene00021238
    Transcript: Y20F4.3a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y20F4.3a.1:c.1546C>T
        HGVSp: CE44723:p.Gln516Ter
        cDNA_position: 1592
        CDS_position: 1546
        Protein_position: 516
        Exon_number: 13/18
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      Y20F4.3b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y20F4.3b.1:c.553C>T
        HGVSp: CE39854:p.Gln185Ter
        cDNA_position: 553
        CDS_position: 553
        Protein_position: 185
        Exon_number: 5/9
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
  Genetics: Interpolated_map_position: I -12.3756
  Reference: WBPaper00042132
  Method: Substitution_allele