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WormBase Tree Display for Variation: WBVar00249213

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Name Class

WBVar00249213EvidencePaper_evidenceWBPaper00005629
NamePublic_namet2012
Other_nameT28F12.2f.1:c.3G>A
T28F12.2c.1:c.-1927G>A
CE21219:p.Met1?
CE33585:p.Met1?
T28F12.2d.2:c.-1363G>A
T28F12.2d.1:c.-1345G>A
T28F12.2a.1:c.3G>A
HGVSgCHROMOSOME_V:g.4497469G>A
Sequence_detailsSMapS_parentSequenceH06N16
Flanking_sequencesaaatttaatatttctctcttgcaggaacatagcggcgactcaaaagtgtgggctcacgc
Mapping_targetH06N16
Type_of_mutationSubstitutiongaPaper_evidenceWBPaper00005629
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00003994
LaboratoryGE
StatusLive
AffectsGeneWBGene00006796
TranscriptT28F12.2c.1VEP_consequence5_prime_UTR_variant
VEP_impactMODIFIER
HGVScT28F12.2c.1:c.-1927G>A
cDNA_position1
Exon_number1/11
T28F12.2d.1VEP_consequence5_prime_UTR_variant
VEP_impactMODIFIER
HGVScT28F12.2d.1:c.-1345G>A
cDNA_position7
Exon_number1/12
T28F12.2a.1 (12)
T28F12.2d.2VEP_consequence5_prime_UTR_variant
VEP_impactMODIFIER
HGVScT28F12.2d.2:c.-1363G>A
cDNA_position9
Exon_number1/12
T28F12.2f.1 (12)
InteractorWBInteraction000503924
GeneticsInterpolated_map_positionV-5.20057
DescriptionPhenotypeWBPhenotype:0000052Paper_evidenceWBPaper00035977
Curator_confirmedWBPerson712
WBPhenotype:0000274Paper_evidenceWBPaper00037125
Curator_confirmedWBPerson712
Maternal
Disease_infoModels_diseaseDOID:1240
Models_disease_in_annotationWBDOannot00000564
ReferenceWBPaper00005629
WBPaper00015436
WBPaper00035977
WBPaper00037125
MethodSubstitution_allele