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WormBase Tree Display for Variation: WBVar00249021

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Name Class

WBVar00249021NamePublic_namesy618
Other_nameCE31440:p.Gln390Ter
CE27833:p.Gln350Ter
C37F5.1a.1:c.1168C>T
C37F5.1b.1:c.1048C>T
HGVSgCHROMOSOME_IV:g.2276432G>A
Sequence_detailsSMapS_parentSequenceC37F5
Flanking_sequencesgtgttccaattcccgccggtctccgcattcaggccacaaatccgctgctaaacacattct
Mapping_targetC37F5
Type_of_mutationSubstitutionctPaper_evidenceWBPaper00024367
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
LaboratoryPS
StatusLive
AffectsGeneWBGene00002990
TranscriptC37F5.1a.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScC37F5.1a.1:c.1168C>T
HGVSpCE31440:p.Gln390Ter
cDNA_position1168
CDS_position1168
Protein_position390
Exon_number6/7
Codon_changeCag/Tag
Amino_acid_changeQ/*
C37F5.1b.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScC37F5.1b.1:c.1048C>T
HGVSpCE27833:p.Gln350Ter
cDNA_position1056
CDS_position1048
Protein_position350
Exon_number5/6
Codon_changeCag/Tag
Amino_acid_changeQ/*
GeneticsInterpolated_map_positionIV-8.49964
DescriptionPhenotypeWBPhenotype:0000700Paper_evidenceWBPaper00024367
Curator_confirmedWBPerson625
RemarkmulitvulvaPaper_evidenceWBPaper00024367
Curator_confirmedWBPerson625
EQ_annotationsAnatomy_termWBbt:0006748PATO:0000460Paper_evidenceWBPaper00024367
Curator_confirmedWBPerson625
ReferenceWBPaper00024367
MethodSubstitution_allele