WormBase Tree Display for Variation: WBVar00043581
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| WBVar00043581 | Evidence | Paper_evidence | WBPaper00040707 | ||
|---|---|---|---|---|---|
| Name | Public_name | WBVar00043581 | |||
| Other_name | pas20313 | ||||
| cewivar00073809 | |||||
| CE52179:p.Val2754Phe | |||||
| ZK973.6c.1:c.8260G>T | |||||
| CE33588:p.Val2761Phe | |||||
| ZK973.6a.1:c.8281G>T | |||||
| CE52283:p.Val1756Phe | |||||
| ZK973.6b.1:c.5266G>T | |||||
| HGVSg | CHROMOSOME_I:g.4340232G>T | ||||
| Sequence_details | SMap | S_parent | Sequence | ZK973 | |
| Flanking_sequences | gggtccgacgtgcttgccacaatcgaagatcagattttgcaaatgccagttcaatatcaaccttccgtaaaggaaacattggataaattgaaacaggcaaaggaggaagatgataaactggcaggtgtctatgacgaattggaaaaaatcgcaaaactaccagccagagattatgacaacaaattgttagcaaaaatcgatgaaaaattgaatagtcttccaaaagatcagattgctgaaacgcatcgaaaagttgaagacattaaagtcacgaaggcggatattgttgctcaaattgat | ttctcgacaaacttccagcaaaagatattgacgaacatttattgaattctatcgaagaaaaactcccaacaatccccagcgattcttcggatcagctccaaattgcaatcggaaaactccgtgataggaaacaagcaaatatcgatgaaggaaaaaagattctgaatgaattagccgaaattcaaaaaatgccagctgattcgttgaacgaacacgccttaaacttgcttgctacggaatcagataaatttggatctgagatttcagataaaatcatgcaagaaatagatgttcttcgcg | |||
| Mapping_target | ZK973 | ||||
| Type_of_mutation | Substitution | G | T | ||
| SeqStatus | Sequenced | ||||
| Variation_type | SNP | ||||
| Predicted_SNP | |||||
| Natural_variant | |||||
| Origin | Species | Caenorhabditis elegans | |||
| Strain (32) | |||||
| Laboratory | QX | ||||
| Person | WBPerson6900 | ||||
| WBPerson1730 | |||||
| Analysis | WGS_Pasadena_Quinlan | ||||
| Million_mutation_project_reanalysis | |||||
| WGS_Andersen | |||||
| History | Acquires_merge | WBVar01431358 | |||
| Status | Live | ||||
| Affects | Gene | WBGene00000140 | |||
| Transcript | ZK973.6c.1 | VEP_consequence | missense_variant | ||
| VEP_impact | MODERATE | ||||
| HGVSc | ZK973.6c.1:c.8260G>T | ||||
| HGVSp | CE52179:p.Val2754Phe | ||||
| cDNA_position | 8260 | ||||
| CDS_position | 8260 | ||||
| Protein_position | 2754 | ||||
| Exon_number | 20/30 | ||||
| Codon_change | Gtt/Ttt | ||||
| Amino_acid_change | V/F | ||||
| ZK973.6b.1 | VEP_consequence | missense_variant | |||
| VEP_impact | MODERATE | ||||
| HGVSc | ZK973.6b.1:c.5266G>T | ||||
| HGVSp | CE52283:p.Val1756Phe | ||||
| cDNA_position | 5352 | ||||
| CDS_position | 5266 | ||||
| Protein_position | 1756 | ||||
| Exon_number | 10/20 | ||||
| Codon_change | Gtt/Ttt | ||||
| Amino_acid_change | V/F | ||||
| ZK973.6a.1 | VEP_consequence | missense_variant | |||
| VEP_impact | MODERATE | ||||
| HGVSc | ZK973.6a.1:c.8281G>T | ||||
| HGVSp | CE33588:p.Val2761Phe | ||||
| cDNA_position | 8281 | ||||
| CDS_position | 8281 | ||||
| Protein_position | 2761 | ||||
| Exon_number | 20/31 | ||||
| Codon_change | Gtt/Ttt | ||||
| Amino_acid_change | V/F | ||||
| Reference | WBPaper00040707 | ||||
| Method | WGS_Pasadena_Quinlan |
