WormBase Tree Display for Variation: WBVar00216746
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| WBVar00216746 | Name | Public_name | WBVar00216746 | ||
|---|---|---|---|---|---|
| Other_name | pas28522 | ||||
| cewivar00115772 | |||||
| CE51729:p.Tyr135= | |||||
| R12H7.1a.1:c.597T>C | |||||
| R12H7.1b.1:c.405T>C | |||||
| CE28246:p.Tyr199= | |||||
| R12H7.1a.2:c.597T>C | |||||
| HGVSg | CHROMOSOME_X:g.13214494T>C | ||||
| Sequence_details | SMap | S_parent | Sequence | R12H7 | |
| Flanking_sequences | ttaccagttatcaatgatcggggtacacctattctagagataatctgattcaaagcattgaagctccgtaaacctaagttttgagatctgaatttttgatgctccacacccctctcggagaactccttcaaaactgaaaaaaaaacaacgatttctgaaaatttttgtttatcatcagattttttcggtttttcttctaatcttattatttttaattttacagatgtccggaaatcgtctgaaactgctcaacttgattatttgcacacgatcttccggtgctgctgtcacgttcctcta | atctctgtcaaaattctgtacaccgtgaacatcgtcggccaaatctttctactgaacacgtttctcggtaaccgtagcaaatggtacggactgcaagttctcaacgacttgatgaacggacgagaatgggaggagtctggtcattttccacgtgtaacgttatgtgactttgaagtaaaagtactgggaaacgtgcaccgacatacagtacaatgtgtacttatgattaacatgttcaacgagaagatctttctgttcttgtggttctggtacttccttcttgccggtgctactttgtgc | |||
| Mapping_target | R12H7 | ||||
| Type_of_mutation | Substitution | T | C | ||
| SeqStatus | Sequenced | ||||
| Variation_type | SNP | ||||
| Predicted_SNP | |||||
| Natural_variant | |||||
| Origin | Species | Caenorhabditis elegans | |||
| Strain (14) | |||||
| Person | WBPerson6900 | ||||
| Analysis | WGS_Pasadena_Quinlan | ||||
| Million_mutation_project_reanalysis | |||||
| Status | Live | ||||
| Affects | Gene | WBGene00006749 | |||
| Transcript | R12H7.1a.2 | VEP_consequence | synonymous_variant | ||
| VEP_impact | LOW | ||||
| HGVSc | R12H7.1a.2:c.597T>C | ||||
| HGVSp | CE28246:p.Tyr199= | ||||
| cDNA_position | 723 | ||||
| CDS_position | 597 | ||||
| Protein_position | 199 | ||||
| Exon_number | 8/11 | ||||
| Codon_change | taT/taC | ||||
| Amino_acid_change | Y | ||||
| R12H7.1a.1 | VEP_consequence | synonymous_variant | |||
| VEP_impact | LOW | ||||
| HGVSc | R12H7.1a.1:c.597T>C | ||||
| HGVSp | CE28246:p.Tyr199= | ||||
| cDNA_position | 639 | ||||
| CDS_position | 597 | ||||
| Protein_position | 199 | ||||
| Exon_number | 7/10 | ||||
| Codon_change | taT/taC | ||||
| Amino_acid_change | Y | ||||
| R12H7.1b.1 | VEP_consequence | synonymous_variant | |||
| VEP_impact | LOW | ||||
| HGVSc | R12H7.1b.1:c.405T>C | ||||
| HGVSp | CE51729:p.Tyr135= | ||||
| cDNA_position | 405 | ||||
| CDS_position | 405 | ||||
| Protein_position | 135 | ||||
| Exon_number | 4/6 | ||||
| Codon_change | taT/taC | ||||
| Amino_acid_change | Y | ||||
| Method | WGS_Pasadena_Quinlan |
