WormBase Tree Display for Variation: WBVar01469872
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WBVar01469872 | Evidence | Paper_evidence | WBPaper00040707 | |||
---|---|---|---|---|---|---|
Name | Public_name | WBVar01469872 | ||||
Other_name | cewivar00527478 | |||||
C54D2.5a.2:c.-76-6020T>A | ||||||
C54D2.5a.1:c.-76-6020T>A | ||||||
HGVSg | CHROMOSOME_X:g.7867327A>T | |||||
Sequence_details | SMap | S_parent | Sequence | EGAP3 | ||
Flanking_sequences | CTGAACATTAAAACATCAAATTCGCTTTTA | TTGTTTGCTTTGATCGAAAACTTCAAAAAT | ||||
Mapping_target | EGAP3 | |||||
Type_of_mutation | Substitution | a | t | |||
SeqStatus | Sequenced | |||||
Variation_type | SNP | |||||
Natural_variant | ||||||
Origin | Species | Caenorhabditis elegans | ||||
Strain | WBStrain00022850 | From_analysis | Million_mutation_project_reanalysis | |||
WGS_Andersen | ||||||
Laboratory | QX | |||||
Person | WBPerson1730 | |||||
Analysis | WGS_Andersen | |||||
Million_mutation_project_reanalysis | ||||||
DB_info | Database | dbSNP_rs | rs | 193355174 | ||
dbSNP_ss | ss | 295531093 | ||||
Status | Live | |||||
Affects | Gene | WBGene00000367 | ||||
Transcript | C54D2.5a.1 | VEP_consequence | intron_variant | |||
VEP_impact | MODIFIER | |||||
HGVSc | C54D2.5a.1:c.-76-6020T>A | |||||
Intron_number | 1/31 | |||||
C54D2.5a.2 | VEP_consequence | intron_variant | ||||
VEP_impact | MODIFIER | |||||
HGVSc | C54D2.5a.2:c.-76-6020T>A | |||||
Intron_number | 2/32 | |||||
Reference | WBPaper00040707 | |||||
Method | WGS_Andersen |