WormBase Tree Display for Variation: WBVar00248993

WBVar00248993 Evidence: Paper_evidence: WBPaper00003592
  Name: Public_name: sy438
    Other_name: C16C2.2b.1:c.1199C>T
      CE17404:p.Ser400Phe
      CE30491:p.Ser400Phe
      C16C2.2a.1:c.1199C>T
      C16C2.3a.1:c.-62+3103G>A
    HGVSg: CHROMOSOME_I:g.9724831C>T
  Sequence_details: SMap: S_parent: Sequence: C16C2
    Flanking_sequences: caaaggattcatatccacgtttcgtccgat ccaaatctacaaagcagtattgacagcagc
    Mapping_target: C16C2
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00003592
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: PS
    Status: Live
  Affects: Gene: WBGene00007620
      WBGene00001145
    Transcript: C16C2.2b.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: C16C2.2b.1:c.1199C>T
        HGVSp: CE30491:p.Ser400Phe
        cDNA_position: 1287
        CDS_position: 1199
        Protein_position: 400
        Exon_number: 9/12
        Codon_change: tCc/tTc
        Amino_acid_change: S/F
      C16C2.2a.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: C16C2.2a.1:c.1199C>T
        HGVSp: CE17404:p.Ser400Phe
        cDNA_position: 1282
        CDS_position: 1199
        Protein_position: 400
        Exon_number: 9/12
        Codon_change: tCc/tTc
        Amino_acid_change: S/F
      C16C2.3a.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: C16C2.3a.1:c.-62+3103G>A
        Intron_number: 1/14
  Genetics: Interpolated_map_position: I 3.86981
  Description (2)
  Reference: WBPaper00004721
  Method: Substitution_allele