WormBase Tree Display for Variation: WBVar00296775

WBVar00296775 Evidence: Paper_evidence: WBPaper00037686
  Name: Public_name: e2974
    Other_name: JC8.12b.1:c.721C>A
      CE29812:p.Gln252Lys
      CE39741:p.Gln241Lys
      JC8.12a.1:c.754C>A
    HGVSg: CHROMOSOME_IV:g.13258404C>A
  Sequence_details: SMap: S_parent: Sequence: JC8
    Flanking_sequences: tgtctcgagaagaatggtccattgaatatg aaattgtgtcaaatgttcgtgcagttgttg
    Mapping_target: JC8
    Type_of_mutation: Substitution: c a
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00010442
    Transcript: JC8.12a.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0.13 tolerated
        PolyPhen: 0.902 possibly_damaging
        HGVSc: JC8.12a.1:c.754C>A
        HGVSp: CE29812:p.Gln252Lys
        cDNA_position: 754
        CDS_position: 754
        Protein_position: 252
        Exon_number: 7/9
        Codon_change: Caa/Aaa
        Amino_acid_change: Q/K
      JC8.12b.1 (12)
  Genetics: Interpolated_map_position: IV 8.50635
  Description: Phenotype: WBPhenotype:0001413 Paper_evidence: WBPaper00037686
        Curator_confirmed: WBPerson712
        Remark: The Bus phenotype is more similar to br5 than to e2740. Paper_evidence: WBPaper00037686
            Curator_confirmed: WBPerson712
  Reference: WBPaper00037686
  Method: Substitution_allele