WormBase Tree Display for Variation: WBVar02130535
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WBVar02130535 | Evidence | Paper_evidence | WBPaper00045317 | |||
---|---|---|---|---|---|---|
Name | Public_name | h9380 | ||||
Other_name | CE35105:p.Ser5Leu | |||||
Y53C12B.7.1:c.14C>T | ||||||
Y53C12B.7.2:c.14C>T | ||||||
HGVSg | CHROMOSOME_II:g.9752291G>A | |||||
Sequence_details | SMap | S_parent | Sequence | Y53C12B | ||
Flanking_sequences | TGGTACGAAAGAATACAATACGACGAAAATATTTAGTGTT | ACAGGGGTCGCATTTCTGTTTGAATTCTGCAAAATCGAAA | ||||
Mapping_target | CHROMOSOME_II | |||||
Source_location | 200 | CHROMOSOME_II | 9752214 | 9752214 | ||
Type_of_mutation | Substitution | G | A | |||
SeqStatus | Sequenced | |||||
Variation_type | Allele | |||||
Origin | Species | Caenorhabditis elegans | ||||
Strain | WBStrain00023675 | |||||
Laboratory | KR | |||||
Analysis | WGS_Rose | |||||
Status | Live | |||||
Affects | Gene | WBGene00013146 | ||||
Transcript | Y53C12B.7.2 | VEP_consequence | missense_variant | |||
VEP_impact | MODERATE | |||||
HGVSc | Y53C12B.7.2:c.14C>T | |||||
HGVSp | CE35105:p.Ser5Leu | |||||
cDNA_position | 62 | |||||
CDS_position | 14 | |||||
Protein_position | 5 | |||||
Exon_number | 3/7 | |||||
Codon_change | tCa/tTa | |||||
Amino_acid_change | S/L | |||||
Y53C12B.7.1 | VEP_consequence | missense_variant | ||||
VEP_impact | MODERATE | |||||
HGVSc | Y53C12B.7.1:c.14C>T | |||||
HGVSp | CE35105:p.Ser5Leu | |||||
cDNA_position | 27 | |||||
CDS_position | 14 | |||||
Protein_position | 5 | |||||
Exon_number | 2/6 | |||||
Codon_change | tCa/tTa | |||||
Amino_acid_change | S/L | |||||
Reference | WBPaper00040589 | |||||
WBPaper00000975 | ||||||
WBPaper00003985 | ||||||
WBPaper00000699 | ||||||
WBPaper00045317 | ||||||
Method | WGS_Rose |