WormBase Tree Display for Variation: WBVar02128933
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WBVar02128933 | Evidence | Paper_evidence | WBPaper00045317 | |||
---|---|---|---|---|---|---|
Name | Public_name | h15391 | ||||
Other_name | CE42178:p.Ser102Leu | |||||
W04A4.2.1:c.305C>T | ||||||
HGVSg | CHROMOSOME_I:g.13683153C>T | |||||
Sequence_details | SMap | S_parent | Sequence | W04A4 | ||
Flanking_sequences | ACTAGTTGAGTGATGTACATTTTATTAGTATTCCAGACAT | ATCCGCCAGTATTAATGCAACATGTGATCCTTACAGTCAG | ||||
Mapping_target | CHROMOSOME_I | |||||
Source_location | 200 | CHROMOSOME_I | 13683140 | 13683140 | ||
Type_of_mutation | Substitution | C | T | |||
SeqStatus | Sequenced | |||||
Variation_type | Allele | |||||
Origin | Species | Caenorhabditis elegans | ||||
Strain | WBStrain00023766 | |||||
Laboratory | KR | |||||
Analysis | WGS_Rose | |||||
Status | Live | |||||
Affects | Gene | WBGene00012231 | ||||
Transcript | W04A4.2.1 | VEP_consequence | missense_variant | |||
VEP_impact | MODERATE | |||||
HGVSc | W04A4.2.1:c.305C>T | |||||
HGVSp | CE42178:p.Ser102Leu | |||||
cDNA_position | 590 | |||||
CDS_position | 305 | |||||
Protein_position | 102 | |||||
Exon_number | 4/10 | |||||
Codon_change | tCa/tTa | |||||
Amino_acid_change | S/L | |||||
Reference | WBPaper00040589 | |||||
WBPaper00000975 | ||||||
WBPaper00003985 | ||||||
WBPaper00000699 | ||||||
WBPaper00045317 | ||||||
Method | WGS_Rose |