WormBase Tree Display for Variation: WBVar00000483
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WBVar00000483 | Evidence | Paper_evidence | WBPaper00005301 | ||||
---|---|---|---|---|---|---|---|
Name | Public_name | bn73 | |||||
Other_name | CE27781:p.Tyr594Ter | ||||||
Y2H9A.1.1:c.1782T>A | |||||||
HGVSg | CHROMOSOME_V:g.13434827A>T | ||||||
Sequence_details | SMap | S_parent | Sequence | Y2H9A | |||
Flanking_sequences | cacggttaatcctttgtgcaattccatcat | taatggttcgccttgaaaaaaaagagtatt | |||||
Mapping_target | Y2H9A | ||||||
Type_of_mutation | Substitution | a | t | Curator_confirmed | WBPerson4055 | ||
SeqStatus | Sequenced | ||||||
Variation_type | Allele | ||||||
Origin | Species | Caenorhabditis elegans | |||||
Laboratory | SS | ||||||
Status | Live | ||||||
Affects | Gene | WBGene00003222 | |||||
Transcript | Y2H9A.1.1 | VEP_consequence | stop_gained | ||||
VEP_impact | HIGH | ||||||
HGVSc | Y2H9A.1.1:c.1782T>A | ||||||
HGVSp | CE27781:p.Tyr594Ter | ||||||
cDNA_position | 1814 | ||||||
CDS_position | 1782 | ||||||
Protein_position | 594 | ||||||
Exon_number | 8/12 | ||||||
Codon_change | taT/taA | ||||||
Amino_acid_change | Y/* | ||||||
Genetics | Interpolated_map_position | V | 5.34177 | ||||
Description | Phenotype | WBPhenotype:0001504 | Paper_evidence | WBPaper00037131 | |||
Curator_confirmed | WBPerson13811 | ||||||
Reference | WBPaper00005301 | ||||||
WBPaper00037131 | |||||||
Remark | Variation flanks and nucleotide change automatically updated to be on the positive strand to fix mapping and gff dumping issues. | ||||||
[200224 mh6] reverse complemented/swapped the change and flanks to move the variation onto the plus strand | Curator_confirmed | WBPerson4055 | |||||
Method | Substitution_allele |