WormBase Tree Display for Variation: WBVar02138788
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WBVar02138788 | Evidence | Paper_evidence | WBPaper00045317 | |||
---|---|---|---|---|---|---|
Name | Public_name | h8195 | ||||
Other_name | CE23505:p.Leu142Ser | |||||
B0294.3.1:c.425T>C | ||||||
HGVSg | CHROMOSOME_X:g.1893130T>C | |||||
Sequence_details | SMap | S_parent | Sequence | B0294 | ||
Flanking_sequences | AAAACAGAAGAAAGAGACGACATGATGGTCACATCTTTTT | GGGCTATTTGGAATCAGAAAAGTGTATTTACGTAAAACAA | ||||
Mapping_target | CHROMOSOME_X | |||||
Source_location | 200 | CHROMOSOME_X | 1893125 | 1893125 | ||
Type_of_mutation | Substitution | T | C | |||
SeqStatus | Sequenced | |||||
Variation_type | Allele | |||||
Origin | Species | Caenorhabditis elegans | ||||
Strain | WBStrain00023690 | |||||
Laboratory | KR | |||||
Analysis | WGS_Rose | |||||
Status | Live | |||||
Affects | Gene | WBGene00015118 | ||||
Transcript | B0294.3.1 | VEP_consequence | missense_variant | |||
VEP_impact | MODERATE | |||||
HGVSc | B0294.3.1:c.425T>C | |||||
HGVSp | CE23505:p.Leu142Ser | |||||
cDNA_position | 425 | |||||
CDS_position | 425 | |||||
Protein_position | 142 | |||||
Exon_number | 2/2 | |||||
Codon_change | tTg/tCg | |||||
Amino_acid_change | L/S | |||||
Reference | WBPaper00040589 | |||||
WBPaper00000975 | ||||||
WBPaper00003985 | ||||||
WBPaper00000699 | ||||||
WBPaper00045317 | ||||||
Method | WGS_Rose |