WormBase Tree Display for Variation: WBVar00146432
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WBVar00146432 | Evidence | Paper_evidence | WBPaper00045317 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | h108 | |||||||
Other_name | CE22098:p.Trp784Ter | ||||||||
Y47G6A.12.1:c.2352G>A | |||||||||
HGVSg | CHROMOSOME_I:g.3435193C>T | ||||||||
Sequence_details | SMap | S_parent | Sequence | Y47G6A | |||||
Flanking_sequences | CAAACGTCATCATTCTACCATCCACAATTTTCCGTCGTTT | CAAAACTCTTCTGGTGTAATGTCTCCGGGATACTTTGCTA | |||||||
Mapping_target | CHROMOSOME_I | ||||||||
Source_location | 200 | CHROMOSOME_I | 3435194 | 3435194 | |||||
Type_of_mutation | Substitution | C | T | ||||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Strain | WBStrain00023685 | ||||||||
Laboratory | KR | ||||||||
Analysis | WGS_Rose | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00004775 | |||||||
Transcript | Y47G6A.12.1 | VEP_consequence | stop_gained | ||||||
VEP_impact | HIGH | ||||||||
HGVSc | Y47G6A.12.1:c.2352G>A | ||||||||
HGVSp | CE22098:p.Trp784Ter | ||||||||
cDNA_position | 2362 | ||||||||
CDS_position | 2352 | ||||||||
Protein_position | 784 | ||||||||
Exon_number | 8/12 | ||||||||
Codon_change | tgG/tgA | ||||||||
Amino_acid_change | W/* | ||||||||
Genetics | Interpolated_map_position | I | -3.71274 | ||||||
Mapping_data | In_2_point | 2532 | |||||||
In_multi_point | 1018 | ||||||||
In_pos_neg_data | 2674 | ||||||||
Description | Phenotype | WBPhenotype:0000062 | Paper_evidence | WBPaper00040589 | |||||
WBPaper00000975 | |||||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000688 | Paper_evidence | WBPaper00003985 | |||||||
Person_evidence | WBPerson261 | ||||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Life_stage | WBls:0000041 | PATO:0000460 | Person_evidence | WBPerson261 | ||||
Curator_confirmed | WBPerson712 | ||||||||
Reference | WBPaper00040589 | ||||||||
WBPaper00000975 | |||||||||
WBPaper00003985 | |||||||||
WBPaper00000699 | |||||||||
WBPaper00045317 | |||||||||
Method | Substitution_allele |