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WormBase Tree Display for Variation: WBVar00145297

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Name Class

WBVar00145297EvidencePaper_evidenceWBPaper00005923
NamePublic_nameez12
Other_nameCE11046:p.Arg431Ter
F54C1.3b.1:c.1234C>T
F54C1.3a.2:c.1291C>T
F54C1.3a.1:c.1291C>T
CE53747:p.Arg412Ter
HGVSgCHROMOSOME_I:g.5000307C>T
Sequence_detailsSMapS_parentSequenceF54C1
Flanking_sequencesctatgcggaagacgtaagagacatttgaccgactcacttcaagatggccgtgtttttcag
Mapping_targetF54C1
Type_of_mutationSubstitutionctPaper_evidenceWBPaper00005923
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
LaboratoryDZ
StatusLive
AffectsGeneWBGene00003221
TranscriptF54C1.3a.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScF54C1.3a.1:c.1291C>T
HGVSpCE11046:p.Arg431Ter
cDNA_position1296
CDS_position1291
Protein_position431
Exon_number11/17
Codon_changeCga/Tga
Amino_acid_changeR/*
F54C1.3b.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScF54C1.3b.1:c.1234C>T
HGVSpCE53747:p.Arg412Ter
cDNA_position1243
CDS_position1234
Protein_position412
Exon_number10/16
Codon_changeCga/Tga
Amino_acid_changeR/*
F54C1.3a.2VEP_consequencestop_gained
VEP_impactHIGH
HGVScF54C1.3a.2:c.1291C>T
HGVSpCE11046:p.Arg431Ter
cDNA_position1296
CDS_position1291
Protein_position431
Exon_number11/18
Codon_changeCga/Tga
Amino_acid_changeR/*
GeneticsInterpolated_map_positionI-0.428809
ReferenceWBPaper00005923
MethodSubstitution_allele