WormBase Tree Display for Variation: WBVar00247064

WBVar00247064 Evidence: Paper_evidence: WBPaper00004703
  Name: Public_name: WBVar00247064
    Other_name: snp_Y39E4A[3]
      CE16616:p.Val352CysfsTer32
      Y39E4A.2c.1:c.878_879insC
      Y39E4A.2a.1:c.1052_1053insC
      Y39E4A.2b.1:c.1109_1110insC
      CE16617:p.Val371CysfsTer32
      CE50587:p.Val294CysfsTer32
    HGVSg: CHROMOSOME_III:g.12953328_12953329insG
  Sequence_details: SMap: S_parent: Sequence: Y39E4A
    Flanking_sequences: gatcagggaacgggcttcggcaaca ttttccatggcgcggttaggagatt
    Mapping_target: Y39E4A
    Type_of_mutation: Insertion: G
    SeqStatus: Sequenced
  Variation_type: SNP
    Predicted_SNP
    RFLP
    Natural_variant
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004602 From_analysis: SNP_Wicks
    Analysis: SNP_Wicks
    Status: Live
  Affects: Gene: WBGene00012712
    Transcript: Y39E4A.2c.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: Y39E4A.2c.1:c.878_879insC
        HGVSp: CE50587:p.Val294CysfsTer32
        cDNA_position: 878-879
        CDS_position: 878-879
        Protein_position: 293
        Exon_number: 3/3
        Codon_change: aat/aaCt
        Amino_acid_change: N/NX
      Y39E4A.2b.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: Y39E4A.2b.1:c.1109_1110insC
        HGVSp: CE16617:p.Val371CysfsTer32
        cDNA_position: 1268-1269
        CDS_position: 1109-1110
        Protein_position: 370
        Exon_number: 4/5
        Codon_change: aat/aaCt
        Amino_acid_change: N/NX
      Y39E4A.2a.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: Y39E4A.2a.1:c.1052_1053insC
        HGVSp: CE16616:p.Val352CysfsTer32
        cDNA_position: 1055-1056
        CDS_position: 1052-1053
        Protein_position: 351
        Exon_number: 5/6
        Codon_change: aat/aaCt
        Amino_acid_change: N/NX
  Reference: WBPaper00004703
  Remark: Predicted SNP: Psnp=0.8227 VarI1=G
    Enzymes. SNP detectable only by sequencing.
    [20040130 db] this Locus was previously named snp_Y39E4.3
    [20040130 db] this Allele was previously named snp_Y39E4.3
    [20090224 db] this Variation was previously named snp_Y39E4[3]
    [20090224 db] original Wicks name : Y39E4A:2980..3878@442 Psnp=0.8227 VarI1=G
    [20090224 db] original Wicks id : eam61d01.s1@379,g,38
    [20090224 db] Snip-SNP
  Method: SNP_Wicks