WormBase Tree Display for Variation: WBVar00146656
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WBVar00146656 | Evidence | Paper_evidence | WBPaper00045317 | |||||
---|---|---|---|---|---|---|---|---|
Name | Public_name | h733 | ||||||
Other_name | CE08098:p.Gln751Ter | |||||||
C10H11.9.1:c.2251C>T | ||||||||
HGVSg | CHROMOSOME_I:g.4741261G>A | |||||||
Sequence_details | SMap | S_parent | Sequence | C10H11 | ||||
Flanking_sequences | CTCTCCTTATCAGCTACCAGAAGATTTTCCTCCAAAGTTT | AGTCTTCATCTTCTCATTCTCAAGTTCATGTTTAAATCCG | ||||||
Mapping_target | CHROMOSOME_I | |||||||
Source_location | 200 | CHROMOSOME_I | 4741262 | 4741262 | ||||
Type_of_mutation | Substitution | G | A | |||||
SeqStatus | Sequenced | |||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Strain | WBStrain00023857 | |||||||
Laboratory | KR | |||||||
Analysis | WGS_Rose | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00002694 | ||||||
Transcript | C10H11.9.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | |||||||
HGVSc | C10H11.9.1:c.2251C>T | |||||||
HGVSp | CE08098:p.Gln751Ter | |||||||
cDNA_position | 2311 | |||||||
CDS_position | 2251 | |||||||
Protein_position | 751 | |||||||
Exon_number | 7/13 | |||||||
Codon_change | Caa/Taa | |||||||
Amino_acid_change | Q/* | |||||||
Genetics | Interpolated_map_position | I | -0.75073 | |||||
Mapping_data | In_pos_neg_data | 6006 | ||||||
6038 | ||||||||
Description | Phenotype | WBPhenotype:0000056 | 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 | |||||||
WBPhenotype:0000058 | Paper_evidence | WBPaper00003985 | ||||||
Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | |||||||
WBPhenotype:0000062 | Paper_evidence | WBPaper00040589 | ||||||
Curator_confirmed | WBPerson712 | |||||||
Reference | WBPaper00040589 | |||||||
WBPaper00002829 | ||||||||
WBPaper00000975 | ||||||||
WBPaper00003985 | ||||||||
WBPaper00000699 | ||||||||
WBPaper00045317 | ||||||||
Method | Substitution_allele |