WormBase Tree Display for Variation: WBVar01240923
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| WBVar01240923 | Evidence | Paper_evidence | WBPaper00037807 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | WBVar01240923 | |||||
| Other_name | cewivar00139331 | ||||||
| F22D3.2j.1:c.1159-222A>G | |||||||
| CE48462:p.Ala13= | |||||||
| F22D3.2i.1:c.39A>G | |||||||
| CE37762:p.Ala48= | |||||||
| F22D3.2d.1:c.1168-234A>G | |||||||
| F22D3.2c.1:c.144A>G | |||||||
| F22D3.2g.1:c.1168-222A>G | |||||||
| F22D3.2e.1:c.1159-234A>G | |||||||
| HGVSg | CHROMOSOME_II:g.6944504A>G | ||||||
| Sequence_details | SMap | S_parent | Sequence | F22D3 | |||
| Flanking_sequences | CCTCCATCTTTTATGATGCGTGTTCATGAAAAAAATGAGTCCGCGCTTGC | ACTGAGCCAGATGATTTTGAAGGCTGCGAGAATGAAACCATAAAGGGCAA | |||||
| Mapping_target | F22D3 | ||||||
| Type_of_mutation | Substitution | a | G | Paper_evidence | WBPaper00037807 | ||
| SeqStatus | Sequenced | ||||||
| Variation_type | SNP | ||||||
| Natural_variant | |||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Strain (11) | |||||||
| Laboratory | AX | ||||||
| Analysis | WGS_De_Bono | ||||||
| Million_mutation_project_reanalysis | |||||||
| DB_info | Database | dbSNP_ss | ss | 539078774 | |||
| Status | Live | ||||||
| Affects | Gene | WBGene00017699 | |||||
| Transcript | F22D3.2g.1 | VEP_consequence | intron_variant | ||||
| VEP_impact | MODIFIER | ||||||
| HGVSc | F22D3.2g.1:c.1168-222A>G | ||||||
| Intron_number | 14/18 | ||||||
| F22D3.2e.1 | VEP_consequence | intron_variant | |||||
| VEP_impact | MODIFIER | ||||||
| HGVSc | F22D3.2e.1:c.1159-234A>G | ||||||
| Intron_number | 14/18 | ||||||
| F22D3.2c.1 | VEP_consequence | synonymous_variant | |||||
| VEP_impact | LOW | ||||||
| HGVSc | F22D3.2c.1:c.144A>G | ||||||
| HGVSp | CE37762:p.Ala48= | ||||||
| cDNA_position | 200 | ||||||
| CDS_position | 144 | ||||||
| Protein_position | 48 | ||||||
| Exon_number | 2/7 | ||||||
| Codon_change | gcA/gcG | ||||||
| Amino_acid_change | A | ||||||
| F22D3.2i.1 | VEP_consequence | synonymous_variant | |||||
| VEP_impact | LOW | ||||||
| HGVSc | F22D3.2i.1:c.39A>G | ||||||
| HGVSp | CE48462:p.Ala13= | ||||||
| cDNA_position | 39 | ||||||
| CDS_position | 39 | ||||||
| Protein_position | 13 | ||||||
| Exon_number | 1/5 | ||||||
| Codon_change | gcA/gcG | ||||||
| Amino_acid_change | A | ||||||
| F22D3.2d.1 | VEP_consequence | intron_variant | |||||
| VEP_impact | MODIFIER | ||||||
| HGVSc | F22D3.2d.1:c.1168-234A>G | ||||||
| Intron_number | 14/18 | ||||||
| F22D3.2j.1 | VEP_consequence | intron_variant | |||||
| VEP_impact | MODIFIER | ||||||
| HGVSc | F22D3.2j.1:c.1159-222A>G | ||||||
| Intron_number | 14/18 | ||||||
| Reference | WBPaper00037807 | ||||||
| Method | WGS_De_Bono |
