WormBase Tree Display for Variation: WBVar02141295
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| WBVar02141295 | Evidence | Paper_evidence | WBPaper00045884 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | js901 | |||||
| Other_name | CE47855:p.Gly1509Val | ||||||
| CE48050:p.Gly1465Val | |||||||
| C52E12.2b.1:c.4526G>T | |||||||
| C52E12.2a.2:c.4394G>T | |||||||
| C52E12.2a.1:c.4394G>T | |||||||
| HGVSg | CHROMOSOME_II:g.7009535G>T | ||||||
| Sequence_details | SMap | S_parent | Sequence | C52E12 | |||
| Flanking_sequences | aaagagttggagttgttgtttcaaagaaag | atatatgaatttcttggaagaaaagactca | |||||
| Mapping_target | C52E12 | ||||||
| Type_of_mutation | Substitution | g | t | Paper_evidence | WBPaper00045884 | ||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Laboratory | NM | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00006831 | |||||
| Transcript | C52E12.2a.2 | VEP_consequence | missense_variant | ||||
| VEP_impact | MODERATE | ||||||
| SIFT | 0 | deleterious_low_confidence | |||||
| PolyPhen | 1 | probably_damaging | |||||
| HGVSc | C52E12.2a.2:c.4394G>T | ||||||
| HGVSp | CE48050:p.Gly1465Val | ||||||
| cDNA_position | 4396 | ||||||
| CDS_position | 4394 | ||||||
| Protein_position | 1465 | ||||||
| Exon_number | 22/24 | ||||||
| Codon_change | gGa/gTa | ||||||
| Amino_acid_change | G/V | ||||||
| C52E12.2b.1 | VEP_consequence | missense_variant | |||||
| VEP_impact | MODERATE | ||||||
| SIFT | 0 | deleterious_low_confidence | |||||
| PolyPhen | 1 | probably_damaging | |||||
| HGVSc | C52E12.2b.1:c.4526G>T | ||||||
| HGVSp | CE47855:p.Gly1509Val | ||||||
| cDNA_position | 4726 | ||||||
| CDS_position | 4526 | ||||||
| Protein_position | 1509 | ||||||
| Exon_number | 23/25 | ||||||
| Codon_change | gGa/gTa | ||||||
| Amino_acid_change | G/V | ||||||
| C52E12.2a.1 | VEP_consequence | missense_variant | |||||
| VEP_impact | MODERATE | ||||||
| SIFT | 0 | deleterious_low_confidence | |||||
| PolyPhen | 1 | probably_damaging | |||||
| HGVSc | C52E12.2a.1:c.4394G>T | ||||||
| HGVSp | CE48050:p.Gly1465Val | ||||||
| cDNA_position | 4530 | ||||||
| CDS_position | 4394 | ||||||
| Protein_position | 1465 | ||||||
| Exon_number | 22/24 | ||||||
| Codon_change | gGa/gTa | ||||||
| Amino_acid_change | G/V | ||||||
| Interactor | WBInteraction000524532 | ||||||
| Genetics | Interpolated_map_position | II | 0.260074 | ||||
| Reference | WBPaper00045884 | ||||||
| Method | Substitution_allele |
