WormBase Tree Display for Variation: WBVar00088123
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| WBVar00088123 | Evidence | Paper_evidence | WBPaper00004891 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | js318 | |||||
| Other_name (12) | |||||||
| HGVSg | CHROMOSOME_X:g.7278263G>A | ||||||
| Sequence_details | SMap | S_parent | Sequence | K03A1 | |||
| Flanking_sequences | gcccccaaaaccaacaaaggacaaatgact | tcgaactatgaaacaaacgcctcaacagca | |||||
| Mapping_target | K03A1 | ||||||
| Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00004891 | ||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Laboratory | NM | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00006750 | |||||
| Transcript | T10A3.1c.1 | VEP_consequence | missense_variant | ||||
| VEP_impact | MODERATE | ||||||
| HGVSc | T10A3.1c.1:c.884C>T | ||||||
| HGVSp | CE53614:p.Ser295Phe | ||||||
| cDNA_position | 884 | ||||||
| CDS_position | 884 | ||||||
| Protein_position | 295 | ||||||
| Exon_number | 7/29 | ||||||
| Codon_change | tCt/tTt | ||||||
| Amino_acid_change | S/F | ||||||
| T10A3.1d.1 | VEP_consequence | missense_variant | |||||
| VEP_impact | MODERATE | ||||||
| HGVSc | T10A3.1d.1:c.884C>T | ||||||
| HGVSp | CE53668:p.Ser295Phe | ||||||
| cDNA_position | 884 | ||||||
| CDS_position | 884 | ||||||
| Protein_position | 295 | ||||||
| Exon_number | 7/28 | ||||||
| Codon_change | tCt/tTt | ||||||
| Amino_acid_change | S/F | ||||||
| T10A3.1e.1 | VEP_consequence | missense_variant | |||||
| VEP_impact | MODERATE | ||||||
| HGVSc | T10A3.1e.1:c.884C>T | ||||||
| HGVSp | CE53500:p.Ser295Phe | ||||||
| cDNA_position | 884 | ||||||
| CDS_position | 884 | ||||||
| Protein_position | 295 | ||||||
| Exon_number | 7/28 | ||||||
| Codon_change | tCt/tTt | ||||||
| Amino_acid_change | S/F | ||||||
| T10A3.1b.1 | VEP_consequence | missense_variant | |||||
| VEP_impact | MODERATE | ||||||
| HGVSc | T10A3.1b.1:c.884C>T | ||||||
| HGVSp | CE31234:p.Ser295Phe | ||||||
| cDNA_position | 884 | ||||||
| CDS_position | 884 | ||||||
| Protein_position | 295 | ||||||
| Exon_number | 7/28 | ||||||
| Codon_change | tCt/tTt | ||||||
| Amino_acid_change | S/F | ||||||
| T10A3.1a.1 | VEP_consequence | missense_variant | |||||
| VEP_impact | MODERATE | ||||||
| HGVSc | T10A3.1a.1:c.884C>T | ||||||
| HGVSp | CE30169:p.Ser295Phe | ||||||
| cDNA_position | 905 | ||||||
| CDS_position | 884 | ||||||
| Protein_position | 295 | ||||||
| Exon_number | 8/28 | ||||||
| Codon_change | tCt/tTt | ||||||
| Amino_acid_change | S/F | ||||||
| T10A3.1f.1 | VEP_consequence | missense_variant | |||||
| VEP_impact | MODERATE | ||||||
| HGVSc | T10A3.1f.1:c.884C>T | ||||||
| HGVSp | CE53547:p.Ser295Phe | ||||||
| cDNA_position | 884 | ||||||
| CDS_position | 884 | ||||||
| Protein_position | 295 | ||||||
| Exon_number | 7/27 | ||||||
| Codon_change | tCt/tTt | ||||||
| Amino_acid_change | S/F | ||||||
| Genetics | Interpolated_map_position | X | -1.78155 | ||||
| Reference | WBPaper00004891 | ||||||
| Method | Substitution_allele |
