WormBase Tree Display for Variation: WBVar00000308
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| WBVar00000308 | Evidence | Paper_evidence | WBPaper00005096 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | ax78 | |||||
| Other_name | W10C6.1.1:c.4820G>A | ||||||
| CE54528:p.Arg1607Lys | |||||||
| HGVSg | CHROMOSOME_II:g.11119987G>A | ||||||
| Sequence_details | SMap | S_parent | Sequence | W10C6 | |||
| Flanking_sequences | gtttcctgtggagcatggctgttgagccga | acttctcgtgccattcgacattgccgagag | |||||
| Mapping_target | W10C6 | ||||||
| Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00005096 | ||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Laboratory | JH | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00003133 | |||||
| Transcript | W10C6.1.1 | VEP_consequence | missense_variant | ||||
| VEP_impact | MODERATE | ||||||
| HGVSc | W10C6.1.1:c.4820G>A | ||||||
| HGVSp | CE54528:p.Arg1607Lys | ||||||
| cDNA_position | 4883 | ||||||
| CDS_position | 4820 | ||||||
| Protein_position | 1607 | ||||||
| Exon_number | 14/17 | ||||||
| Codon_change | aGa/aAa | ||||||
| Amino_acid_change | R/K | ||||||
| Genetics | Interpolated_map_position | II | 3.31765 | ||||
| Description | Phenotype | WBPhenotype:0001216 | Paper_evidence | WBPaper00004484 | |||
| Curator_confirmed | WBPerson205 | ||||||
| Reference | WBPaper00004484 | ||||||
| WBPaper00005096 | |||||||
| Method | Substitution_allele |
