WormBase Tree Display for Variation: WBVar00038251
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| WBVar00038251 | Evidence | Paper_evidence | WBPaper00037807 | ||
|---|---|---|---|---|---|
| Name | Public_name | WBVar00038251 | |||
| Other_name | pas19247 | ||||
| cewivar00080044 | |||||
| F56D12.1a.2:c.1657T>C | |||||
| F56D12.1d.1:c.1237T>C | |||||
| CE40074:p.Ser413Pro | |||||
| F56D12.1a.1:c.1657T>C | |||||
| CE29047:p.Ser553Pro | |||||
| F56D12.1b.1:c.*686T>C | |||||
| HGVSg | CHROMOSOME_II:g.1306420A>G | ||||
| Sequence_details | SMap | S_parent | Sequence | Y57G7A | |
| Flanking_sequences | tttcgggagggaaatttctgaaaaatattgattttttccaactttttaatggaaaagttcggttggaaggtataaaaatagcgagaaaactataaaataaacggttatagctggaaaaaaggaaaaaaaacaaaatttattatgcgatcacgggggaaaaaaaattaaaattcagtggtaaagcaataattgttgacctaatcaaaaagaaaactatattctcaatatgagaaaaatcggaaatgaaaagaaaaaaacaacataattattccattgatggatatttccagtcagtcaatg | caccgacgtctccttaatcgtcagcggcgaggtccatcggagcccatagtgggggccaccggccttatcattggttccggacaatctggagcctccgaatggctgctggccgacgattgatccagttgatttgtcgttgaggtacatgttgccgacggcgtcgcggagaacatcgcgagctctgagaaaaaaaaacactttgttgaaaaacgtttttaacacaaaaattcgcctcaaaaatctcgaaaaatcgatcgaaatccaacaaaaattccaataaaaaataccgtagccctttaa | |||
| Mapping_target | Y57G7A | ||||
| Type_of_mutation | Substitution | A | G | ||
| SeqStatus | Sequenced | ||||
| Variation_type | SNP | ||||
| Predicted_SNP | |||||
| Natural_variant | |||||
| Origin | Species | Caenorhabditis elegans | |||
| Strain (12) | |||||
| Laboratory | AX | ||||
| Person | WBPerson6900 | ||||
| Analysis | WGS_Pasadena_Quinlan | ||||
| WGS_De_Bono | |||||
| Million_mutation_project_reanalysis | |||||
| History | Acquires_merge | WBVar01360203 | |||
| WBVar01294530 | |||||
| Status | Live | ||||
| Affects | Gene | WBGene00000112 | |||
| Transcript | F56D12.1b.1 | VEP_consequence | 3_prime_UTR_variant | ||
| VEP_impact | MODIFIER | ||||
| HGVSc | F56D12.1b.1:c.*686T>C | ||||
| cDNA_position | 2227 | ||||
| Exon_number | 8/8 | ||||
| F56D12.1a.2 | VEP_consequence | missense_variant | |||
| VEP_impact | MODERATE | ||||
| HGVSc | F56D12.1a.2:c.1657T>C | ||||
| HGVSp | CE29047:p.Ser553Pro | ||||
| cDNA_position | 1756 | ||||
| CDS_position | 1657 | ||||
| Protein_position | 553 | ||||
| Exon_number | 9/10 | ||||
| Codon_change | Tca/Cca | ||||
| Amino_acid_change | S/P | ||||
| F56D12.1a.1 | VEP_consequence | missense_variant | |||
| VEP_impact | MODERATE | ||||
| HGVSc | F56D12.1a.1:c.1657T>C | ||||
| HGVSp | CE29047:p.Ser553Pro | ||||
| cDNA_position | 1660 | ||||
| CDS_position | 1657 | ||||
| Protein_position | 553 | ||||
| Exon_number | 8/9 | ||||
| Codon_change | Tca/Cca | ||||
| Amino_acid_change | S/P | ||||
| F56D12.1d.1 | VEP_consequence | missense_variant | |||
| VEP_impact | MODERATE | ||||
| HGVSc | F56D12.1d.1:c.1237T>C | ||||
| HGVSp | CE40074:p.Ser413Pro | ||||
| cDNA_position | 1237 | ||||
| CDS_position | 1237 | ||||
| Protein_position | 413 | ||||
| Exon_number | 4/4 | ||||
| Codon_change | Tca/Cca | ||||
| Amino_acid_change | S/P | ||||
| Reference | WBPaper00037807 | ||||
| Method | WGS_Pasadena_Quinlan |
