WormBase Tree Display for Variation: WBVar01453031
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| WBVar01453031 | Evidence | Paper_evidence | WBPaper00040707 | |||
|---|---|---|---|---|---|---|
| Name | Public_name | WBVar01453031 | ||||
| Other_name | R13A1.2d.1:c.1989A>G | |||||
| R13A1.2a.1:c.2028A>G | ||||||
| R13A1.2e.1:c.1893A>G | ||||||
| CE48379:p.Lys676= | ||||||
| CE48404:p.Lys600= | ||||||
| CE48440:p.Lys663= | ||||||
| R13A1.2c.1:c.2163A>G | ||||||
| CE48417:p.Lys721= | ||||||
| R13A1.2b.1:c.1800A>G | ||||||
| CE48469:p.Lys631= | ||||||
| HGVSg | CHROMOSOME_IV:g.7215809A>G | |||||
| Sequence_details | SMap | S_parent | Sequence | R13A1 | ||
| Flanking_sequences | TAAATACGTGGAATGGAAGGGAGCCAAAAA | GAATGGGGAGACGGAATTCGTGGACTTGCT | ||||
| Mapping_target | R13A1 | |||||
| Type_of_mutation | Substitution | a | g | |||
| SeqStatus | Sequenced | |||||
| Variation_type | SNP | |||||
| Natural_variant | ||||||
| Origin | Species | Caenorhabditis elegans | ||||
| Strain | WBStrain00031279 | From_analysis | WGS_Andersen | |||
| WBStrain00031284 | From_analysis | WGS_Andersen | ||||
| Laboratory | QX | |||||
| Person | WBPerson1730 | |||||
| Analysis | WGS_Andersen | |||||
| DB_info | Database | dbSNP_rs | rs | 193338688 | ||
| dbSNP_ss | ss | 295514607 | ||||
| Status | Live | |||||
| Affects | Gene | WBGene00006504 | ||||
| Transcript | R13A1.2c.1 | VEP_consequence | synonymous_variant | |||
| VEP_impact | LOW | |||||
| HGVSc | R13A1.2c.1:c.2163A>G | |||||
| HGVSp | CE48417:p.Lys721= | |||||
| cDNA_position | 2163 | |||||
| CDS_position | 2163 | |||||
| Protein_position | 721 | |||||
| Exon_number | 12/15 | |||||
| Codon_change | aaA/aaG | |||||
| Amino_acid_change | K | |||||
| R13A1.2b.1 | VEP_consequence | synonymous_variant | ||||
| VEP_impact | LOW | |||||
| HGVSc | R13A1.2b.1:c.1800A>G | |||||
| HGVSp | CE48404:p.Lys600= | |||||
| cDNA_position | 1800 | |||||
| CDS_position | 1800 | |||||
| Protein_position | 600 | |||||
| Exon_number | 9/11 | |||||
| Codon_change | aaA/aaG | |||||
| Amino_acid_change | K | |||||
| R13A1.2a.1 | VEP_consequence | synonymous_variant | ||||
| VEP_impact | LOW | |||||
| HGVSc | R13A1.2a.1:c.2028A>G | |||||
| HGVSp | CE48379:p.Lys676= | |||||
| cDNA_position | 2028 | |||||
| CDS_position | 2028 | |||||
| Protein_position | 676 | |||||
| Exon_number | 9/12 | |||||
| Codon_change | aaA/aaG | |||||
| Amino_acid_change | K | |||||
| R13A1.2d.1 | VEP_consequence | synonymous_variant | ||||
| VEP_impact | LOW | |||||
| HGVSc | R13A1.2d.1:c.1989A>G | |||||
| HGVSp | CE48440:p.Lys663= | |||||
| cDNA_position | 1989 | |||||
| CDS_position | 1989 | |||||
| Protein_position | 663 | |||||
| Exon_number | 11/13 | |||||
| Codon_change | aaA/aaG | |||||
| Amino_acid_change | K | |||||
| R13A1.2e.1 | VEP_consequence | synonymous_variant | ||||
| VEP_impact | LOW | |||||
| HGVSc | R13A1.2e.1:c.1893A>G | |||||
| HGVSp | CE48469:p.Lys631= | |||||
| cDNA_position | 1893 | |||||
| CDS_position | 1893 | |||||
| Protein_position | 631 | |||||
| Exon_number | 10/12 | |||||
| Codon_change | aaA/aaG | |||||
| Amino_acid_change | K | |||||
| Reference | WBPaper00040707 | |||||
| Method | WGS_Andersen |
