WormBase Tree Display for Variation: WBVar00144640
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| WBVar00144640 | Evidence | Paper_evidence | WBPaper00041001 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | e2216 | |||||
| Other_name (11) | |||||||
| HGVSg | CHROMOSOME_V:g.8788653C>T | ||||||
| Sequence_details | SMap | S_parent | Sequence | C01B7 | |||
| Flanking_sequences | agaattgatccagatatgatggaggatcgtt | gctggaattgtttcaaaagtgtcaggttag | |||||
| Mapping_target | C01B7 | ||||||
| Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00041001 | ||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Laboratory | CB | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00006342 | |||||
| Transcript | C01B7.1d.1 | VEP_consequence | missense_variant | ||||
| VEP_impact | MODERATE | ||||||
| HGVSc | C01B7.1d.1:c.1442C>T | ||||||
| HGVSp | CE52291:p.Ser481Leu | ||||||
| cDNA_position | 1442 | ||||||
| CDS_position | 1442 | ||||||
| Protein_position | 481 | ||||||
| Exon_number | 3/7 | ||||||
| Codon_change | tCg/tTg | ||||||
| Amino_acid_change | S/L | ||||||
| C01B7.1b.1 | VEP_consequence | missense_variant | |||||
| VEP_impact | MODERATE | ||||||
| HGVSc | C01B7.1b.1:c.1442C>T | ||||||
| HGVSp | CE30719:p.Ser481Leu | ||||||
| cDNA_position | 1522 | ||||||
| CDS_position | 1442 | ||||||
| Protein_position | 481 | ||||||
| Exon_number | 5/8 | ||||||
| Codon_change | tCg/tTg | ||||||
| Amino_acid_change | S/L | ||||||
| C01B7.1a.1 | VEP_consequence | missense_variant | |||||
| VEP_impact | MODERATE | ||||||
| HGVSc | C01B7.1a.1:c.1442C>T | ||||||
| HGVSp | CE29553:p.Ser481Leu | ||||||
| cDNA_position | 1516 | ||||||
| CDS_position | 1442 | ||||||
| Protein_position | 481 | ||||||
| Exon_number | 5/11 | ||||||
| Codon_change | tCg/tTg | ||||||
| Amino_acid_change | S/L | ||||||
| C01B7.1c.1 | VEP_consequence | missense_variant | |||||
| VEP_impact | MODERATE | ||||||
| HGVSc | C01B7.1c.1:c.1442C>T | ||||||
| HGVSp | CE45324:p.Ser481Leu | ||||||
| cDNA_position | 1522 | ||||||
| CDS_position | 1442 | ||||||
| Protein_position | 481 | ||||||
| Exon_number | 5/11 | ||||||
| Codon_change | tCg/tTg | ||||||
| Amino_acid_change | S/L | ||||||
| C01B7.1c.2 | VEP_consequence | missense_variant | |||||
| VEP_impact | MODERATE | ||||||
| HGVSc | C01B7.1c.2:c.1442C>T | ||||||
| HGVSp | CE45324:p.Ser481Leu | ||||||
| cDNA_position | 1454 | ||||||
| CDS_position | 1442 | ||||||
| Protein_position | 481 | ||||||
| Exon_number | 4/10 | ||||||
| Codon_change | tCg/tTg | ||||||
| Amino_acid_change | S/L | ||||||
| C01B7.1b.2 | VEP_consequence | missense_variant | |||||
| VEP_impact | MODERATE | ||||||
| HGVSc | C01B7.1b.2:c.1442C>T | ||||||
| HGVSp | CE30719:p.Ser481Leu | ||||||
| cDNA_position | 1454 | ||||||
| CDS_position | 1442 | ||||||
| Protein_position | 481 | ||||||
| Exon_number | 4/7 | ||||||
| Codon_change | tCg/tTg | ||||||
| Amino_acid_change | S/L | ||||||
| C01B7.1a.2 | VEP_consequence | missense_variant | |||||
| VEP_impact | MODERATE | ||||||
| HGVSc | C01B7.1a.2:c.1442C>T | ||||||
| HGVSp | CE29553:p.Ser481Leu | ||||||
| cDNA_position | 1454 | ||||||
| CDS_position | 1442 | ||||||
| Protein_position | 481 | ||||||
| Exon_number | 4/10 | ||||||
| Codon_change | tCg/tTg | ||||||
| Amino_acid_change | S/L | ||||||
| Genetics | Interpolated_map_position | V | 1.608 | ||||
| Reference | WBPaper00041001 | ||||||
| Method | Substitution_allele |
