WormBase Tree Display for Variation: WBVar02134534

WBVar02134534 Evidence: Paper_evidence: WBPaper00045317
  Name: Public_name: h17281
    Other_name: CE48446:p.Ser650Phe
      C24F3.5a.1:c.1949C>T
      C24F3.5b.1:c.1712C>T
      CE40439:p.Ser571Phe
    HGVSg: CHROMOSOME_IV:g.10210569G>A
  Sequence_details: SMap: S_parent: Sequence: T17B5
    Flanking_sequences: AACTTTATCTGAAATGGCTTCGGTTTCTTCAGGATCGTAG ATGAAACTATTATTGATCTGAATAATAATTTTGTGACGGA
    Mapping_target: CHROMOSOME_IV
    Source_location: 200 CHROMOSOME_IV 10210540 10210540
    Type_of_mutation: Substitution: G A
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00023866
    Laboratory: KR
    Analysis: WGS_Rose
    Status: Live
  Affects: Gene: WBGene00000019
    Transcript: C24F3.5a.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: C24F3.5a.1:c.1949C>T
        HGVSp: CE48446:p.Ser650Phe
        cDNA_position: 1949
        CDS_position: 1949
        Protein_position: 650
        Exon_number: 12/29
        Codon_change: tCc/tTc
        Amino_acid_change: S/F
      C24F3.5b.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: C24F3.5b.1:c.1712C>T
        HGVSp: CE40439:p.Ser571Phe
        cDNA_position: 1712
        CDS_position: 1712
        Protein_position: 571
        Exon_number: 10/26
        Codon_change: tCc/tTc
        Amino_acid_change: S/F
  Reference: WBPaper00040589
    WBPaper00000975
    WBPaper00003985
    WBPaper00000699
    WBPaper00045317
  Method: WGS_Rose