WormBase Tree Display for Variation: WBVar00144828
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WBVar00144828 | Evidence | Paper_evidence | WBPaper00014314 | ||||
---|---|---|---|---|---|---|---|
Name | Public_name | e2429 | |||||
Other_name | F14F3.1a.1:c.233+1G>A | ||||||
F14F3.1a.2:c.233+1G>A | |||||||
HGVSg | CHROMOSOME_X:g.10511055G>A | ||||||
Sequence_details | SMap | S_parent | Sequence | F14F3 | |||
Flanking_sequences | accacgagcaattggtggctcaaaaccaag | tctgtgtatatacattttttattcagcaat | |||||
Mapping_target | F14F3 | ||||||
Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00024640 | ||
SeqStatus | Sequenced | ||||||
Variation_type | Allele | ||||||
Origin | Species | Caenorhabditis elegans | |||||
Laboratory | CB | ||||||
Status | Live | ||||||
Affects | Gene | WBGene00006870 | |||||
Transcript | F14F3.1a.1 | VEP_consequence | splice_donor_variant | ||||
VEP_impact | HIGH | ||||||
HGVSc | F14F3.1a.1:c.233+1G>A | ||||||
Intron_number | 5/13 | ||||||
F14F3.1a.2 | VEP_consequence | splice_donor_variant | |||||
VEP_impact | HIGH | ||||||
HGVSc | F14F3.1a.2:c.233+1G>A | ||||||
Intron_number | 4/12 | ||||||
Genetics | Interpolated_map_position | X | 2.22423 | ||||
Reference | WBPaper00014314 | ||||||
Remark | The exon numbering in the paper refers to a combination of all isoforms. Exon 4 corresponds to exon 3 in F14F3.1a. | Paper_evidence | WBPaper00024640 | ||||
Method | Substitution_allele |