WormBase Tree Display for Variation: WBVar00146566
expand all nodes | collapse all nodes | view schema
WBVar00146566 | Evidence | Person_evidence | WBPerson301 | |||||
---|---|---|---|---|---|---|---|---|
Name | Public_name | h402 | ||||||
Other_name | F57B10.1.2:c.394C>T | |||||||
CE37244:p.Gln132Ter | ||||||||
F57B10.1.1:c.394C>T | ||||||||
HGVSg | CHROMOSOME_I:g.6580679C>T | |||||||
Sequence_details | SMap | S_parent | Sequence | F48A9 | ||||
Flanking_sequences | TGAAGATCTTATGGATTGCTATCCAAGCATTGATATTCTA | AACAAGCATCCGAAGAACTATTATATTCAAAAGACGATGA | ||||||
Mapping_target | CHROMOSOME_I | |||||||
Source_location | 200 | CHROMOSOME_I | 6580680 | 6580680 | ||||
Type_of_mutation | Substitution | C | T | |||||
SeqStatus | Sequenced | |||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Strain | WBStrain00023779 | |||||||
Laboratory | KR | |||||||
Analysis | WGS_Rose | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00002783 | ||||||
Transcript | F57B10.1.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | |||||||
HGVSc | F57B10.1.1:c.394C>T | |||||||
HGVSp | CE37244:p.Gln132Ter | |||||||
cDNA_position | 521 | |||||||
CDS_position | 394 | |||||||
Protein_position | 132 | |||||||
Exon_number | 4/10 | |||||||
Codon_change | Caa/Taa | |||||||
Amino_acid_change | Q/* | |||||||
F57B10.1.2 | VEP_consequence | stop_gained | ||||||
VEP_impact | HIGH | |||||||
HGVSc | F57B10.1.2:c.394C>T | |||||||
HGVSp | CE37244:p.Gln132Ter | |||||||
cDNA_position | 610 | |||||||
CDS_position | 394 | |||||||
Protein_position | 132 | |||||||
Exon_number | 3/9 | |||||||
Codon_change | Caa/Taa | |||||||
Amino_acid_change | Q/* | |||||||
Genetics | Interpolated_map_position | I | 1.21661 | |||||
Mapping_data | In_pos_neg_data (13) | |||||||
Description | Phenotype | WBPhenotype:0000050 | Paper_evidence | WBPaper00003985 | ||||
Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | |||||||
WBPhenotype:0000062 | Paper_evidence | WBPaper00040589 | ||||||
Curator_confirmed | WBPerson712 | |||||||
WBPhenotype:0000867 | Paper_evidence | WBPaper00002829 | ||||||
Curator_confirmed | WBPerson712 | |||||||
Remark | arrest during egg stage | Paper_evidence | WBPaper00002829 | |||||
Curator_confirmed | WBPerson712 | |||||||
Recessive | Paper_evidence | WBPaper00002829 | ||||||
Curator_confirmed | WBPerson712 | |||||||
Phenotype_assay | Genotype | dpy-5 unc-13; sDp2 | Paper_evidence | WBPaper00002829 | ||||
Curator_confirmed | WBPerson712 | |||||||
Reference | WBPaper00040589 | |||||||
WBPaper00002829 | ||||||||
WBPaper00000975 | ||||||||
WBPaper00003985 | ||||||||
WBPaper00000699 | ||||||||
WBPaper00045317 | ||||||||
Method | Substitution_allele |