WormBase Tree Display for Variation: WBVar02140990

WBVar02140990 Evidence: Paper_evidence: WBPaper00045317
  Name: Public_name: h5088
    Other_name: CE40635:p.Leu117=
      CE44330:p.Leu72=
      C08A9.3b.1:c.351C>T
      C08A9.3a.1:c.216C>T
    HGVSg: CHROMOSOME_X:g.17091149G>A
  Sequence_details: SMap: S_parent: Sequence: C08A9
    Flanking_sequences: TTGGAAGAGAACTTGCAATTGATATTTGGACAGGTTGGCT AGCTAAACATTTTGGATAAAGTGCGATTTGAGTTTTGCTA
    Mapping_target: CHROMOSOME_X
    Source_location: 200 CHROMOSOME_X 17091065 17091065
    Type_of_mutation: Substitution: G A
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00023666
    Laboratory: KR
    Analysis: WGS_Rose
    Status: Live
  Affects: Gene: WBGene00015583
    Transcript: C08A9.3b.1 VEP_consequence: splice_region_variant,synonymous_variant
        VEP_impact: LOW
        HGVSc: C08A9.3b.1:c.351C>T
        HGVSp: CE40635:p.Leu117=
        cDNA_position: 351
        CDS_position: 351
        Protein_position: 117
        Exon_number: 4/16
        Codon_change: ctC/ctT
        Amino_acid_change: L
      C08A9.3a.1 VEP_consequence: splice_region_variant,synonymous_variant
        VEP_impact: LOW
        HGVSc: C08A9.3a.1:c.216C>T
        HGVSp: CE44330:p.Leu72=
        cDNA_position: 286
        CDS_position: 216
        Protein_position: 72
        Exon_number: 5/17
        Codon_change: ctC/ctT
        Amino_acid_change: L
  Reference: WBPaper00040589
    WBPaper00000975
    WBPaper00003985
    WBPaper00000699
    WBPaper00045317
  Method: WGS_Rose