WormBase Tree Display for Variation: WBVar01245623
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| WBVar01245623 | Evidence | Paper_evidence | WBPaper00037807 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | WBVar01245623 | |||||
| Other_name (15) | |||||||
| HGVSg | CHROMOSOME_II:g.11847383G>A | ||||||
| Sequence_details | SMap | S_parent | Sequence | T27D12 | |||
| Flanking_sequences | TCTTCCATGTCCAATTTCTTTGATAGAATTTCAGCTCTCTTTGCCAAAGA | TGCTGAAAATGTATTTTGGAAAAGGTCTGAAAAAGGTAAGCTAACCACAA | |||||
| Mapping_target | T27D12 | ||||||
| Type_of_mutation | Substitution | g | A | Paper_evidence | WBPaper00037807 | ||
| SeqStatus | Sequenced | ||||||
| Variation_type | SNP | ||||||
| Natural_variant | |||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Strain (12) | |||||||
| Laboratory | AX | ||||||
| Analysis | WGS_De_Bono | ||||||
| Million_mutation_project_reanalysis | |||||||
| DB_info | Database | dbSNP_ss | ss | 539083004 | |||
| Status | Live | ||||||
| Affects | Gene | WBGene00000528 | |||||
| Transcript | T27D12.2b.1 | VEP_consequence | splice_region_variant,synonymous_variant | ||||
| VEP_impact | LOW | ||||||
| HGVSc | T27D12.2b.1:c.2304C>T | ||||||
| HGVSp | CE28090:p.His768= | ||||||
| cDNA_position | 2307 | ||||||
| CDS_position | 2304 | ||||||
| Protein_position | 768 | ||||||
| Exon_number | 16/19 | ||||||
| Codon_change | caC/caT | ||||||
| Amino_acid_change | H | ||||||
| T27D12.2a.1 | VEP_consequence | splice_region_variant,synonymous_variant | |||||
| VEP_impact | LOW | ||||||
| HGVSc | T27D12.2a.1:c.2316C>T | ||||||
| HGVSp | CE27450:p.His772= | ||||||
| cDNA_position | 2317 | ||||||
| CDS_position | 2316 | ||||||
| Protein_position | 772 | ||||||
| Exon_number | 16/19 | ||||||
| Codon_change | caC/caT | ||||||
| Amino_acid_change | H | ||||||
| T27D12.2f.1 | VEP_consequence | splice_region_variant,synonymous_variant | |||||
| VEP_impact | LOW | ||||||
| HGVSc | T27D12.2f.1:c.2148C>T | ||||||
| HGVSp | CE54346:p.His716= | ||||||
| cDNA_position | 2148 | ||||||
| CDS_position | 2148 | ||||||
| Protein_position | 716 | ||||||
| Exon_number | 14/16 | ||||||
| Codon_change | caC/caT | ||||||
| Amino_acid_change | H | ||||||
| T27D12.2c.1 | VEP_consequence | splice_region_variant,synonymous_variant | |||||
| VEP_impact | LOW | ||||||
| HGVSc | T27D12.2c.1:c.2517C>T | ||||||
| HGVSp | CE54385:p.His839= | ||||||
| cDNA_position | 2517 | ||||||
| CDS_position | 2517 | ||||||
| Protein_position | 839 | ||||||
| Exon_number | 16/18 | ||||||
| Codon_change | caC/caT | ||||||
| Amino_acid_change | H | ||||||
| T27D12.2d.1 | VEP_consequence | splice_region_variant,synonymous_variant | |||||
| VEP_impact | LOW | ||||||
| HGVSc | T27D12.2d.1:c.2331C>T | ||||||
| HGVSp | CE54369:p.His777= | ||||||
| cDNA_position | 2331 | ||||||
| CDS_position | 2331 | ||||||
| Protein_position | 777 | ||||||
| Exon_number | 14/16 | ||||||
| Codon_change | caC/caT | ||||||
| Amino_acid_change | H | ||||||
| T27D12.2g.1 | VEP_consequence | splice_region_variant,synonymous_variant | |||||
| VEP_impact | LOW | ||||||
| HGVSc | T27D12.2g.1:c.2181C>T | ||||||
| HGVSp | CE54389:p.His727= | ||||||
| cDNA_position | 2181 | ||||||
| CDS_position | 2181 | ||||||
| Protein_position | 727 | ||||||
| Exon_number | 15/17 | ||||||
| Codon_change | caC/caT | ||||||
| Amino_acid_change | H | ||||||
| T27D12.2e.1 | VEP_consequence | splice_region_variant,synonymous_variant | |||||
| VEP_impact | LOW | ||||||
| HGVSc | T27D12.2e.1:c.2337C>T | ||||||
| HGVSp | CE54361:p.His779= | ||||||
| cDNA_position | 2338 | ||||||
| CDS_position | 2337 | ||||||
| Protein_position | 779 | ||||||
| Exon_number | 17/20 | ||||||
| Codon_change | caC/caT | ||||||
| Amino_acid_change | H | ||||||
| Reference | WBPaper00037807 | ||||||
| Method | WGS_De_Bono |
