WormBase Tree Display for Variation: WBVar00002546
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| WBVar00002546 | Name | Public_name | WBVar00002546 | ||
|---|---|---|---|---|---|
| Other_name | pas12106 | ||||
| haw112294 | |||||
| oicr_ce343 | |||||
| cewivar00066071 | |||||
| Y48G1BL.2a.1:c.1124T>C | |||||
| CE49304:p.Leu375Ser | |||||
| HGVSg | CHROMOSOME_I:g.189916T>C | ||||
| Sequence_details | SMap | S_parent | Sequence | K10E9 | |
| Flanking_sequences | gacccatttctactaattttctttttcagaaatgcataatgcgtttgattgatgatctcgtgaagctcgccatgatcgaaaccgtacacggccaccgtaccatgaacgaagtgacacgtggaaatattcaaaaactcgtgaaaaccggaatccaagagtctctgaaatcggcgcaccgaaatttctcaaggagttcgacattttcgatttccgaagaatgcgtgagatatctgacgagatggttgttggccgaacgaagacttgaacagccgtctgcggctatgaatgaatcgtttgaat | gaccggtgatagcagtagtaagaagaaggacgatgccacgtttgatagtgcgtaaatggaattctaccaaaaggagatctacaaaaagaaaatctacgaaaataggatttggcacggtgccagatcgatcttttttcggctcaaaattggaaaaacctgcaatttttatacatttttggcttcgaaaatcagggaactctgcaatttttggcatttttcgctaaaaaattggaaaaatctgcaatttttatacatttttggctcacaaactggaaaaacttccaattttcatctcaaaaa | |||
| Mapping_target | K10E9 | ||||
| Type_of_mutation | Substitution | T | C | ||
| SeqStatus | Sequenced | ||||
| Variation_type | SNP | ||||
| Predicted_SNP | |||||
| Natural_variant | |||||
| Origin | Species | Caenorhabditis elegans | |||
| Strain (130) | |||||
| Laboratory | QX | ||||
| AX | |||||
| Person | WBPerson6900 | ||||
| WBPerson4037 | |||||
| WBPerson1730 | |||||
| Analysis | WGS_Pasadena_Quinlan | ||||
| WGS_De_Bono | |||||
| WGS_Yanai | |||||
| WGS_Stein | |||||
| Million_mutation_project_reanalysis | |||||
| WGS_Andersen | |||||
| History | Acquires_merge | WBVar00532159 | |||
| WBVar01277596 | |||||
| WBVar00601924 | |||||
| WBVar01429716 | |||||
| Status | Live | ||||
| Affects | Gene | WBGene00000227 | |||
| Transcript | Y48G1BL.2a.1 | VEP_consequence | missense_variant | ||
| VEP_impact | MODERATE | ||||
| HGVSc | Y48G1BL.2a.1:c.1124T>C | ||||
| HGVSp | CE49304:p.Leu375Ser | ||||
| cDNA_position | 1136 | ||||
| CDS_position | 1124 | ||||
| Protein_position | 375 | ||||
| Exon_number | 6/30 | ||||
| Codon_change | tTg/tCg | ||||
| Amino_acid_change | L/S | ||||
| Reference | WBPaper00038208 | ||||
| WBPaper00040707 | |||||
| WBPaper00037807 | |||||
| Method | WGS_Pasadena_Quinlan |
