WormBase Tree Display for Variation: WBVar00088346
expand all nodes | collapse all nodes | view schema
| WBVar00088346 | Name | Public_name | ku234 | ||||
|---|---|---|---|---|---|---|---|
| Other_name (12) | |||||||
| HGVSg | CHROMOSOME_V:g.4499798G>A | ||||||
| Sequence_details | SMap | S_parent | Sequence | T28F12 | |||
| Flanking_sequences | AGCAAGGCCCCGTGTGTCGGCAACGACGAT | GCGCAGAGGGTACTTCTTCTTCTTCTTCT | |||||
| Mapping_target | T28F12 | ||||||
| Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00006796 | ||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Laboratory | MH | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00006796 | |||||
| Transcript | T28F12.2e.1 (12) | ||||||
| T28F12.2d.4 | VEP_consequence | 5_prime_UTR_variant | |||||
| VEP_impact | MODIFIER | ||||||
| HGVSc | T28F12.2d.4:c.-1234G>A | ||||||
| cDNA_position | 323 | ||||||
| Exon_number | 1/12 | ||||||
| T28F12.2d.1 | VEP_consequence | intron_variant | |||||
| VEP_impact | MODIFIER | ||||||
| HGVSc | T28F12.2d.1:c.-1224-1421G>A | ||||||
| Intron_number | 1/11 | ||||||
| T28F12.2a.1 | VEP_consequence | intron_variant | |||||
| VEP_impact | MODIFIER | ||||||
| HGVSc | T28F12.2a.1:c.124-1421G>A | ||||||
| Intron_number | 2/11 | ||||||
| T28F12.2b.1 (12) | |||||||
| T28F12.2d.2 | VEP_consequence | intron_variant | |||||
| VEP_impact | MODIFIER | ||||||
| HGVSc | T28F12.2d.2:c.-1242-1421G>A | ||||||
| Intron_number | 1/11 | ||||||
| T28F12.2c.1 | VEP_consequence | intron_variant | |||||
| VEP_impact | MODIFIER | ||||||
| HGVSc | T28F12.2c.1:c.-1806-1421G>A | ||||||
| Intron_number | 1/10 | ||||||
| T28F12.2d.3 | VEP_consequence | 5_prime_UTR_variant | |||||
| VEP_impact | MODIFIER | ||||||
| HGVSc | T28F12.2d.3:c.-1252G>A | ||||||
| cDNA_position | 472 | ||||||
| Exon_number | 1/12 | ||||||
| T28F12.2c.2 | VEP_consequence | 5_prime_UTR_variant | |||||
| VEP_impact | MODIFIER | ||||||
| HGVSc | T28F12.2c.2:c.-1432G>A | ||||||
| cDNA_position | 311 | ||||||
| Exon_number | 1/11 | ||||||
| T28F12.2f.1 | VEP_consequence | intron_variant | |||||
| VEP_impact | MODIFIER | ||||||
| HGVSc | T28F12.2f.1:c.124-1421G>A | ||||||
| Intron_number | 2/10 | ||||||
| Interactor | WBInteraction000520401 | ||||||
| WBInteraction000520402 | |||||||
| Genetics | Interpolated_map_position | V | -5.19497 | ||||
| Reference | WBPaper00005629 | ||||||
| Remark | Flanks corrected in WS290 to allow this variant correctly map to M1I in the first exon of isoform T28F12.2b | Person_evidence | WBPerson61944 | ||||
| Curator_confirmed | WBPerson51134 | ||||||
| Method | Substitution_allele |
