WormBase Tree Display for Variation: WBVar02133522

WBVar02133522 Evidence: Paper_evidence: WBPaper00045317
  Name: Public_name: h10295
    Other_name: Y54G2A.50.3:c.377G>A
      Y54G2A.50.1:c.377G>A
      Y54G2A.50.2:c.377G>A
      CE38902:p.Gly126Asp
    HGVSg: CHROMOSOME_IV:g.2919296G>A
  Sequence_details: SMap: S_parent: Sequence: Y54G2A
    Flanking_sequences: TGCTTCATCGTCTTCATCTTCGGATTCGAAAGGAGATTCG CGATGGTCGTCACTGTCACTACTTGAATGACAAGAAGCGA
    Mapping_target: CHROMOSOME_IV
    Source_location: 200 CHROMOSOME_IV 2919293 2919293
    Type_of_mutation: Substitution: G A
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00023777
    Laboratory: KR
    Analysis: WGS_Rose
    Status: Live
  Affects: Gene: WBGene00044493
    Transcript: Y54G2A.50.3 (11)
      Y54G2A.50.2 (11)
      Y54G2A.50.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        PolyPhen: 0 unknown
        HGVSc: Y54G2A.50.1:c.377G>A
        HGVSp: CE38902:p.Gly126Asp
        cDNA_position: 549
        CDS_position: 377
        Protein_position: 126
        Exon_number: 6/8
        Codon_change: gGc/gAc
        Amino_acid_change: G/D
  Reference: WBPaper00040589
    WBPaper00000975
    WBPaper00003985
    WBPaper00000699
    WBPaper00045317
  Method: WGS_Rose