WormBase Tree Display for Variation: WBVar02130181
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| WBVar02130181 | Evidence | Paper_evidence | WBPaper00045317 | |||
|---|---|---|---|---|---|---|
| Name | Public_name | h12076 | ||||
| Other_name | C52E12.2a.1:c.2863C>T | |||||
| C52E12.2b.1:c.3004C>T | ||||||
| C52E12.2a.2:c.2863C>T | ||||||
| CE47855:p.Pro1002Ser | ||||||
| CE48050:p.Pro955Ser | ||||||
| HGVSg | CHROMOSOME_II:g.7007231C>T | |||||
| Sequence_details | SMap | S_parent | Sequence | C52E12 | ||
| Flanking_sequences | CAGTTTCTTGCACCGCCATGATGAAGCCTTCTCAACGGAG | CAATGAAAAACTCAAAATCTCCATTAACATTCGAACACAC | ||||
| Mapping_target | CHROMOSOME_II | |||||
| Source_location | 200 | CHROMOSOME_II | 7007170 | 7007170 | ||
| Type_of_mutation | Substitution | C | T | |||
| SeqStatus | Sequenced | |||||
| Variation_type | Allele | |||||
| Origin | Species | Caenorhabditis elegans | ||||
| Strain | WBStrain00023761 | |||||
| Laboratory | KR | |||||
| Analysis | WGS_Rose | |||||
| Status | Live | |||||
| Affects | Gene | WBGene00006831 | ||||
| Transcript | C52E12.2a.2 | VEP_consequence | missense_variant | |||
| VEP_impact | MODERATE | |||||
| HGVSc | C52E12.2a.2:c.2863C>T | |||||
| HGVSp | CE48050:p.Pro955Ser | |||||
| cDNA_position | 2865 | |||||
| CDS_position | 2863 | |||||
| Protein_position | 955 | |||||
| Exon_number | 17/24 | |||||
| Codon_change | Cca/Tca | |||||
| Amino_acid_change | P/S | |||||
| C52E12.2b.1 | VEP_consequence | missense_variant | ||||
| VEP_impact | MODERATE | |||||
| HGVSc | C52E12.2b.1:c.3004C>T | |||||
| HGVSp | CE47855:p.Pro1002Ser | |||||
| cDNA_position | 3204 | |||||
| CDS_position | 3004 | |||||
| Protein_position | 1002 | |||||
| Exon_number | 18/25 | |||||
| Codon_change | Cca/Tca | |||||
| Amino_acid_change | P/S | |||||
| C52E12.2a.1 | VEP_consequence | missense_variant | ||||
| VEP_impact | MODERATE | |||||
| HGVSc | C52E12.2a.1:c.2863C>T | |||||
| HGVSp | CE48050:p.Pro955Ser | |||||
| cDNA_position | 2999 | |||||
| CDS_position | 2863 | |||||
| Protein_position | 955 | |||||
| Exon_number | 17/24 | |||||
| Codon_change | Cca/Tca | |||||
| Amino_acid_change | P/S | |||||
| Reference | WBPaper00040589 | |||||
| WBPaper00000975 | ||||||
| WBPaper00003985 | ||||||
| WBPaper00000699 | ||||||
| WBPaper00045317 | ||||||
| Method | WGS_Rose |
