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WormBase Tree Display for Variation: WBVar00089029

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Name Class

WBVar00089029EvidencePerson_evidenceWBPerson6998
NamePublic_namemn105
Other_nameC44H4.4.1:c.2215+5235G>A
CE43213:p.Gln305Ter
C44H4.2.1:c.913C>T
HGVSgCHROMOSOME_X:g.14579120C>T
Sequence_detailsSMapS_parentSequenceC44H4
Flanking_sequencesATTCCAGCAAATAGTTTGTCTGGACTGAAGAACTACGGCAATTGTACCTTGCACACAACA
Mapping_targetC44H4
Type_of_mutationSubstitutionct
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00034159
WBStrain00047866
WBStrain00047885
LaboratorySP
StatusLive
AffectsGeneWBGene00002282
WBGene00008094
TranscriptC44H4.4.1VEP_consequenceintron_variant
VEP_impactMODIFIER
HGVScC44H4.4.1:c.2215+5235G>A
Intron_number15/20
C44H4.2.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScC44H4.2.1:c.913C>T
HGVSpCE43213:p.Gln305Ter
cDNA_position1009
CDS_position913
Protein_position305
Exon_number5/11
Codon_changeCaa/Taa
Amino_acid_changeQ/*
IsolationMutagenEMS
GeneticsInterpolated_map_positionX16.7518
Mapping_dataIn_2_point191
In_multi_point186
2651
In_pos_neg_data (14)
DescriptionPhenotype (15)
ReferenceWBPaper00040698
WBPaper00000241
MethodSubstitution_allele