WormBase Tree Display for Variation: WBVar02133996
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| WBVar02133996 | Evidence | Paper_evidence | WBPaper00045317 | |||
|---|---|---|---|---|---|---|
| Name | Public_name | h9842 | ||||
| Other_name | CE25048:p.Ser295Phe | |||||
| K08B4.1a.1:c.890C>T | ||||||
| K08B4.1d.1:c.1241C>T | ||||||
| K08B4.1c.1:c.752C>T | ||||||
| CE28839:p.Ser297Phe | ||||||
| CE49360:p.Ser414Phe | ||||||
| CE49374:p.Ser251Phe | ||||||
| K08B4.1b.1:c.884C>T | ||||||
| HGVSg | CHROMOSOME_IV:g.6107906C>T | |||||
| Sequence_details | SMap | S_parent | Sequence | K08B4 | ||
| Flanking_sequences | ACAGAACTCGTCGCCTACATTGGAATCGGATCAGACACTT | CGAGCGACAACAACTTGATTTTTCAACGGGAAAAGTTCGA | ||||
| Mapping_target | CHROMOSOME_IV | |||||
| Source_location | 200 | CHROMOSOME_IV | 6107890 | 6107890 | ||
| Type_of_mutation | Substitution | C | T | |||
| SeqStatus | Sequenced | |||||
| Variation_type | Allele | |||||
| Origin | Species | Caenorhabditis elegans | ||||
| Strain | WBStrain00023726 | |||||
| Laboratory | KR | |||||
| Analysis | WGS_Rose | |||||
| Status | Live | |||||
| Affects | Gene | WBGene00002245 | ||||
| Transcript | K08B4.1a.1 | VEP_consequence | missense_variant | |||
| VEP_impact | MODERATE | |||||
| HGVSc | K08B4.1a.1:c.890C>T | |||||
| HGVSp | CE28839:p.Ser297Phe | |||||
| cDNA_position | 899 | |||||
| CDS_position | 890 | |||||
| Protein_position | 297 | |||||
| Exon_number | 9/14 | |||||
| Codon_change | tCc/tTc | |||||
| Amino_acid_change | S/F | |||||
| K08B4.1c.1 | VEP_consequence | missense_variant | ||||
| VEP_impact | MODERATE | |||||
| HGVSc | K08B4.1c.1:c.752C>T | |||||
| HGVSp | CE49374:p.Ser251Phe | |||||
| cDNA_position | 752 | |||||
| CDS_position | 752 | |||||
| Protein_position | 251 | |||||
| Exon_number | 6/10 | |||||
| Codon_change | tCc/tTc | |||||
| Amino_acid_change | S/F | |||||
| K08B4.1d.1 | VEP_consequence | missense_variant | ||||
| VEP_impact | MODERATE | |||||
| HGVSc | K08B4.1d.1:c.1241C>T | |||||
| HGVSp | CE49360:p.Ser414Phe | |||||
| cDNA_position | 2882 | |||||
| CDS_position | 1241 | |||||
| Protein_position | 414 | |||||
| Exon_number | 7/12 | |||||
| Codon_change | tCc/tTc | |||||
| Amino_acid_change | S/F | |||||
| K08B4.1b.1 | VEP_consequence | missense_variant | ||||
| VEP_impact | MODERATE | |||||
| HGVSc | K08B4.1b.1:c.884C>T | |||||
| HGVSp | CE25048:p.Ser295Phe | |||||
| cDNA_position | 893 | |||||
| CDS_position | 884 | |||||
| Protein_position | 295 | |||||
| Exon_number | 9/14 | |||||
| Codon_change | tCc/tTc | |||||
| Amino_acid_change | S/F | |||||
| Reference | WBPaper00040589 | |||||
| WBPaper00000975 | ||||||
| WBPaper00003985 | ||||||
| WBPaper00000699 | ||||||
| WBPaper00045317 | ||||||
| Method | WGS_Rose |
