WormBase Tree Display for Variation: WBVar02126404

WBVar02126404 Evidence: Paper_evidence: WBPaper00045317
  Name: Public_name: h15066
    Other_name: Y71G12B.25b.1:c.533C>T
      Y71G12B.25a.1:c.965C>T
      CE49553:p.Ser178Phe
      Y71G12B.8.1:c.763+3099G>A
      CE44015:p.Ser322Phe
    HGVSg: CHROMOSOME_I:g.1773168G>A
  Sequence_details: SMap: S_parent: Sequence: Y71G12B
    Flanking_sequences: TCCGTATTTCCCAGAAACTCACGTGGTAATCTGTGTTGAA ATTCAGCATAAGCAACAGCATATGCTGCTGTCTGAACTGC
    Mapping_target: CHROMOSOME_I
    Source_location: 200 CHROMOSOME_I 1773169 1773169
    Type_of_mutation: Substitution: G A
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00023875
    Laboratory: KR
    Analysis: WGS_Rose
    Status: Live
  Affects: Gene: WBGene00022160
      WBGene00022148
    Transcript: Y71G12B.8.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: Y71G12B.8.1:c.763+3099G>A
        Intron_number: 3/7
      Y71G12B.25b.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: Y71G12B.25b.1:c.533C>T
        HGVSp: CE49553:p.Ser178Phe
        cDNA_position: 533
        CDS_position: 533
        Protein_position: 178
        Exon_number: 1/2
        Codon_change: tCt/tTt
        Amino_acid_change: S/F
      Y71G12B.25a.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: Y71G12B.25a.1:c.965C>T
        HGVSp: CE44015:p.Ser322Phe
        cDNA_position: 982
        CDS_position: 965
        Protein_position: 322
        Exon_number: 3/5
        Codon_change: tCt/tTt
        Amino_acid_change: S/F
  Reference: WBPaper00040589
    WBPaper00000975
    WBPaper00003985
    WBPaper00000699
    WBPaper00045317
  Method: WGS_Rose