WormBase Tree Display for Variation: WBVar00248988
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| WBVar00248988 | Name | Public_name | sy432 | ||||
|---|---|---|---|---|---|---|---|
| Other_name | CE17597:p.Leu224Phe | ||||||
| C52E4.6a.1:c.670C>T | |||||||
| HGVSg | CHROMOSOME_V:g.11992018G>A | ||||||
| Sequence_details | SMap | S_parent | Sequence | C52E4 | |||
| Flanking_sequences | tttcagatgatcaactccgaaagaagaata | ttgcaactctgggatttgttgttcacgtga | |||||
| Mapping_target | C52E4 | ||||||
| Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00024662 | ||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Laboratory | PS | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00000876 | |||||
| Transcript | C52E4.6a.1 | VEP_consequence | missense_variant | ||||
| VEP_impact | MODERATE | ||||||
| SIFT | 0 | deleterious | |||||
| PolyPhen | 1 | probably_damaging | |||||
| HGVSc | C52E4.6a.1:c.670C>T | ||||||
| HGVSp | CE17597:p.Leu224Phe | ||||||
| cDNA_position | 698 | ||||||
| CDS_position | 670 | ||||||
| Protein_position | 224 | ||||||
| Exon_number | 8/10 | ||||||
| Codon_change | Ctt/Ttt | ||||||
| Amino_acid_change | L/F | ||||||
| Genetics | Interpolated_map_position | V | 3.56834 | ||||
| Method | Substitution_allele |
