WormBase Tree Display for Variation: WBVar02131632
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| WBVar02131632 | Evidence | Paper_evidence | WBPaper00045317 | |||
|---|---|---|---|---|---|---|
| Name | Public_name | h3320 | ||||
| Other_name | H14E04.2b.1:c.1123C>T | |||||
| H14E04.2c.1:c.1135C>T | ||||||
| CE32458:p.Gln250Ter | ||||||
| H14E04.2d.1:c.748C>T | ||||||
| CE20967:p.Gln375Ter | ||||||
| CE29974:p.Gln379Ter | ||||||
| H14E04.2a.1:c.1114C>T | ||||||
| CE20966:p.Gln372Ter | ||||||
| HGVSg | CHROMOSOME_III:g.2381858C>T | |||||
| Sequence_details | SMap | S_parent | Sequence | H14E04 | ||
| Flanking_sequences | TCGGCTCGGTGACGTCATCGTGTCGGCTTCACGGCCACAT | AATACGTTTATGCTCACGATTTGCTGTTTAACAGGCAAAC | ||||
| Mapping_target | CHROMOSOME_III | |||||
| Source_location | 200 | CHROMOSOME_III | 2381846 | 2381846 | ||
| Type_of_mutation | Substitution | C | T | |||
| SeqStatus | Sequenced | |||||
| Variation_type | Allele | |||||
| Origin | Species | Caenorhabditis elegans | ||||
| Strain | WBStrain00023785 | |||||
| Laboratory | KR | |||||
| Analysis | WGS_Rose | |||||
| Status | Live | |||||
| Affects | Gene | WBGene00019199 | ||||
| Transcript | H14E04.2a.1 | VEP_consequence | stop_gained | |||
| VEP_impact | HIGH | |||||
| HGVSc | H14E04.2a.1:c.1114C>T | |||||
| HGVSp | CE20966:p.Gln372Ter | |||||
| cDNA_position | 1119 | |||||
| CDS_position | 1114 | |||||
| Protein_position | 372 | |||||
| Exon_number | 8/12 | |||||
| Codon_change | Caa/Taa | |||||
| Amino_acid_change | Q/* | |||||
| H14E04.2c.1 | VEP_consequence | stop_gained | ||||
| VEP_impact | HIGH | |||||
| HGVSc | H14E04.2c.1:c.1135C>T | |||||
| HGVSp | CE29974:p.Gln379Ter | |||||
| cDNA_position | 1140 | |||||
| CDS_position | 1135 | |||||
| Protein_position | 379 | |||||
| Exon_number | 9/13 | |||||
| Codon_change | Caa/Taa | |||||
| Amino_acid_change | Q/* | |||||
| H14E04.2b.1 | VEP_consequence | stop_gained | ||||
| VEP_impact | HIGH | |||||
| HGVSc | H14E04.2b.1:c.1123C>T | |||||
| HGVSp | CE20967:p.Gln375Ter | |||||
| cDNA_position | 1130 | |||||
| CDS_position | 1123 | |||||
| Protein_position | 375 | |||||
| Exon_number | 8/12 | |||||
| Codon_change | Caa/Taa | |||||
| Amino_acid_change | Q/* | |||||
| H14E04.2d.1 | VEP_consequence | stop_gained | ||||
| VEP_impact | HIGH | |||||
| HGVSc | H14E04.2d.1:c.748C>T | |||||
| HGVSp | CE32458:p.Gln250Ter | |||||
| cDNA_position | 764 | |||||
| CDS_position | 748 | |||||
| Protein_position | 250 | |||||
| Exon_number | 5/9 | |||||
| Codon_change | Caa/Taa | |||||
| Amino_acid_change | Q/* | |||||
| Reference | WBPaper00040589 | |||||
| WBPaper00000975 | ||||||
| WBPaper00003985 | ||||||
| WBPaper00000699 | ||||||
| WBPaper00045317 | ||||||
| Method | WGS_Rose |
