WormBase Tree Display for Variation: WBVar00146344
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WBVar00146344 | Evidence | Paper_evidence | WBPaper00003653 | ||
---|---|---|---|---|---|
WBPaper00042557 | |||||
Name | Public_name | gm122 | |||
Other_name | C01G6.8b.1:c.757C>T | ||||
C01G6.8a.1:c.835C>T | |||||
CE39126:p.Gln120Ter | |||||
C01G6.8c.1:c.358C>T | |||||
C01G6.8c.2:c.358C>T | |||||
CE24774:p.Gln253Ter | |||||
CE32563:p.Gln279Ter | |||||
HGVSg | CHROMOSOME_II:g.9298616G>A | ||||
Sequence_details | SMap | S_parent | Sequence | C01G6 | |
Flanking_sequences | tataaagtttgcgaatcggattctaacaat | aaattgtttcgatttgcaagcacgattgtg | |||
Mapping_target | C01G6 | ||||
Type_of_mutation | Substitution | c | t | ||
SeqStatus | Sequenced | ||||
Variation_type | Allele | ||||
Origin | Species | Caenorhabditis elegans | |||
Strain | WBStrain00028753 | ||||
WBStrain00035434 | |||||
WBStrain00035438 | |||||
WBStrain00035439 | |||||
WBStrain00055653 | |||||
Laboratory | NG | ||||
Status | Live | ||||
Affects | Gene | WBGene00000289 | |||
Transcript | C01G6.8c.1 | VEP_consequence | stop_gained | ||
VEP_impact | HIGH | ||||
HGVSc | C01G6.8c.1:c.358C>T | ||||
HGVSp | CE39126:p.Gln120Ter | ||||
cDNA_position | 461 | ||||
CDS_position | 358 | ||||
Protein_position | 120 | ||||
Exon_number | 3/8 | ||||
Codon_change | Caa/Taa | ||||
Amino_acid_change | Q/* | ||||
C01G6.8b.1 | VEP_consequence | stop_gained | |||
VEP_impact | HIGH | ||||
HGVSc | C01G6.8b.1:c.757C>T | ||||
HGVSp | CE24774:p.Gln253Ter | ||||
cDNA_position | 789 | ||||
CDS_position | 757 | ||||
Protein_position | 253 | ||||
Exon_number | 5/10 | ||||
Codon_change | Caa/Taa | ||||
Amino_acid_change | Q/* | ||||
C01G6.8c.2 | VEP_consequence | stop_gained | |||
VEP_impact | HIGH | ||||
HGVSc | C01G6.8c.2:c.358C>T | ||||
HGVSp | CE39126:p.Gln120Ter | ||||
cDNA_position | 363 | ||||
CDS_position | 358 | ||||
Protein_position | 120 | ||||
Exon_number | 2/7 | ||||
Codon_change | Caa/Taa | ||||
Amino_acid_change | Q/* | ||||
C01G6.8a.1 | VEP_consequence | stop_gained | |||
VEP_impact | HIGH | ||||
HGVSc | C01G6.8a.1:c.835C>T | ||||
HGVSp | CE32563:p.Gln279Ter | ||||
cDNA_position | 838 | ||||
CDS_position | 835 | ||||
Protein_position | 279 | ||||
Exon_number | 6/11 | ||||
Codon_change | Caa/Taa | ||||
Amino_acid_change | Q/* | ||||
Interactor (53) | |||||
Genetics | Interpolated_map_position | II | 1.10234 | ||
Description (2) | |||||
Reference (11) | |||||
Method | Substitution_allele |