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WormBase Tree Display for Variation: WBVar00000483

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Name Class

WBVar00000483EvidencePaper_evidenceWBPaper00005301
NamePublic_namebn73
Other_nameCE27781:p.Tyr594Ter
Y2H9A.1.1:c.1782T>A
HGVSgCHROMOSOME_V:g.13434827A>T
Sequence_detailsSMapS_parentSequenceY2H9A
Flanking_sequencescacggttaatcctttgtgcaattccatcattaatggttcgccttgaaaaaaaagagtatt
Mapping_targetY2H9A
Type_of_mutationSubstitutionatCurator_confirmedWBPerson4055
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
LaboratorySS
StatusLive
AffectsGeneWBGene00003222
TranscriptY2H9A.1.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScY2H9A.1.1:c.1782T>A
HGVSpCE27781:p.Tyr594Ter
cDNA_position1814
CDS_position1782
Protein_position594
Exon_number8/12
Codon_changetaT/taA
Amino_acid_changeY/*
GeneticsInterpolated_map_positionV5.34177
DescriptionPhenotypeWBPhenotype:0001504Paper_evidenceWBPaper00037131
Curator_confirmedWBPerson13811
ReferenceWBPaper00005301
WBPaper00037131
RemarkVariation 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 strandCurator_confirmedWBPerson4055
MethodSubstitution_allele