WormBase Tree Display for Variation: WBVar00060225
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| WBVar00060225 | Evidence | Paper_evidence | WBPaper00037807 | ||
|---|---|---|---|---|---|
| Name | Public_name | WBVar00060225 | |||
| Other_name | pas23642 | ||||
| cewivar00107361 | |||||
| CE01409:p.Leu126Ser | |||||
| T20B12.3.1:c.377T>C | |||||
| HGVSg | CHROMOSOME_III:g.7382542T>C | ||||
| Sequence_details | SMap | S_parent | Sequence | T20B12 | |
| Flanking_sequences | atgaagcgcctgacaatgtcgatgtcaattatgagttggagagggaagaacccaaaagcaagtctgttgcagaattcactaaatttttgcaagaatgcgaatatccggatgacatcataaaatactttaaaacgataaagtttttcgaaaaagacgcaaaaactggagatattgtttctacaaaatcactaaagtttactgtaaccggtttcattcaatacttgtttggcacgaagcgaattcagcgtccagttctcagaggaatcgctaaaatttttggaagatatgatattttccact | aatctccccggagcttgtgaagtctataacggtgagttaaaatatctgtatttgtttatacgaatcacacattttcagcacctaaaagaaactcgcaccaccgcctggttcaacctgttcaattttctttcattcgtcccgcacccaactgatcgagtgacgaaaccattatttcgccagttttgtgtcagaactccattcaacgataaaagtatgaaaaaacgaaagctgacatggatctcaactgactatgacaacgtttggatggctgttatgaatggaaaaattagtgacaagttg | |||
| Mapping_target | T20B12 | ||||
| Type_of_mutation | Substitution | T | C | ||
| SeqStatus | Sequenced | ||||
| Variation_type | SNP | ||||
| Predicted_SNP | |||||
| Natural_variant | |||||
| Origin | Species | Caenorhabditis elegans | |||
| Strain (47) | |||||
| Laboratory | AX | ||||
| Person | WBPerson6900 | ||||
| Analysis | WGS_Pasadena_Quinlan | ||||
| WGS_De_Bono | |||||
| Million_mutation_project_reanalysis | |||||
| WGS_Andersen | |||||
| History | Acquires_merge | WBVar01446697 | |||
| WBVar01446698 | |||||
| WBVar01265425 | |||||
| Status | Live | ||||
| Affects | Gene | WBGene00020601 | |||
| Transcript | T20B12.3.1 | VEP_consequence | missense_variant | ||
| VEP_impact | MODERATE | ||||
| HGVSc | T20B12.3.1:c.377T>C | ||||
| HGVSp | CE01409:p.Leu126Ser | ||||
| cDNA_position | 381 | ||||
| CDS_position | 377 | ||||
| Protein_position | 126 | ||||
| Exon_number | 3/7 | ||||
| Codon_change | tTa/tCa | ||||
| Amino_acid_change | L/S | ||||
| Reference | WBPaper00037807 | ||||
| Method | WGS_Pasadena_Quinlan |
