WormBase Tree Display for Variation: WBVar00095098
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WBVar00095098 | Evidence | Paper_evidence | WBPaper00006369 | ||
---|---|---|---|---|---|
Name | Public_name | oz235 | |||
Other_name | Y53C12B.3e.1:c.184C>T | ||||
Y53C12B.3b.1:c.532C>T | |||||
CE54289:p.Gln196Ter | |||||
Y53C12B.3d.1:c.586C>T | |||||
CE54300:p.Gln62Ter | |||||
CE18413:p.Gln178Ter | |||||
Y53C12B.3c.1:c.586C>T | |||||
Y53C12B.3a.1:c.532C>T | |||||
CE54262:p.Gln196Ter | |||||
CE19224:p.Gln178Ter | |||||
HGVSg | CHROMOSOME_II:g.9747545C>T | ||||
Sequence_details | SMap | S_parent | Sequence | Y53C12B | |
Flanking_sequences | atagacattttgcaaattctttattttcag | agtatcaacaaatggaaagcggtggtccgc | |||
Mapping_target | Y53C12B | ||||
Type_of_mutation | Substitution | c | t | ||
SeqStatus | Sequenced | ||||
Variation_type | Allele | ||||
Origin | Species | Caenorhabditis elegans | |||
Laboratory | BS | ||||
Status | Live | ||||
Affects | Gene | WBGene00003785 | |||
Transcript | Y53C12B.3e.1 | VEP_consequence | stop_gained,splice_region_variant | ||
VEP_impact | HIGH | ||||
HGVSc | Y53C12B.3e.1:c.184C>T | ||||
HGVSp | CE54300:p.Gln62Ter | ||||
cDNA_position | 184 | ||||
CDS_position | 184 | ||||
Protein_position | 62 | ||||
Exon_number | 2/6 | ||||
Codon_change | Cag/Tag | ||||
Amino_acid_change | Q/* | ||||
Y53C12B.3d.1 | VEP_consequence | stop_gained,splice_region_variant | |||
VEP_impact | HIGH | ||||
HGVSc | Y53C12B.3d.1:c.586C>T | ||||
HGVSp | CE54289:p.Gln196Ter | ||||
cDNA_position | 586 | ||||
CDS_position | 586 | ||||
Protein_position | 196 | ||||
Exon_number | 4/9 | ||||
Codon_change | Cag/Tag | ||||
Amino_acid_change | Q/* | ||||
Y53C12B.3b.1 | VEP_consequence | stop_gained,splice_region_variant | |||
VEP_impact | HIGH | ||||
HGVSc | Y53C12B.3b.1:c.532C>T | ||||
HGVSp | CE18413:p.Gln178Ter | ||||
cDNA_position | 551 | ||||
CDS_position | 532 | ||||
Protein_position | 178 | ||||
Exon_number | 4/9 | ||||
Codon_change | Cag/Tag | ||||
Amino_acid_change | Q/* | ||||
Y53C12B.3c.1 | VEP_consequence | stop_gained,splice_region_variant | |||
VEP_impact | HIGH | ||||
HGVSc | Y53C12B.3c.1:c.586C>T | ||||
HGVSp | CE54262:p.Gln196Ter | ||||
cDNA_position | 737 | ||||
CDS_position | 586 | ||||
Protein_position | 196 | ||||
Exon_number | 5/10 | ||||
Codon_change | Cag/Tag | ||||
Amino_acid_change | Q/* | ||||
Y53C12B.3a.1 | VEP_consequence | stop_gained,splice_region_variant | |||
VEP_impact | HIGH | ||||
HGVSc | Y53C12B.3a.1:c.532C>T | ||||
HGVSp | CE19224:p.Gln178Ter | ||||
cDNA_position | 564 | ||||
CDS_position | 532 | ||||
Protein_position | 178 | ||||
Exon_number | 4/9 | ||||
Codon_change | Cag/Tag | ||||
Amino_acid_change | Q/* | ||||
Genetics | Interpolated_map_position | II | 1.70838 | ||
Reference | WBPaper00006369 | ||||
Method | Substitution_allele |