WormBase Tree Display for Variation: WBVar00088276
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WBVar00088276 | Evidence | Paper_evidence | WBPaper00004727 | ||
---|---|---|---|---|---|
Name | Public_name | ks5 | |||
Other_name | C40H5.5b.1:c.516+1G>A | ||||
C40H5.5a.1:c.600+1G>A | |||||
HGVSg | CHROMOSOME_X:g.11766925C>T | ||||
Sequence_details | SMap | S_parent | Sequence | C40H5 | |
Flanking_sequences | atttttcatcatgcgtgtttcgtatgtttt | tgagtttttaacaattttaaacaaattgtt | |||
Mapping_target | C40H5 | ||||
Type_of_mutation | Substitution | g | a | ||
SeqStatus | Sequenced | ||||
Variation_type | Allele | ||||
Origin | Species | Caenorhabditis elegans | |||
Strain | WBStrain00007506 | ||||
WBStrain00052442 | |||||
Laboratory | FK | ||||
Status | Live | ||||
Affects | Gene | WBGene00006654 | |||
Transcript | C40H5.5b.1 | VEP_consequence | splice_donor_variant | ||
VEP_impact | HIGH | ||||
HGVSc | C40H5.5b.1:c.516+1G>A | ||||
Intron_number | 4/8 | ||||
C40H5.5a.1 | VEP_consequence | splice_donor_variant | |||
VEP_impact | HIGH | ||||
HGVSc | C40H5.5a.1:c.600+1G>A | ||||
Intron_number | 5/10 | ||||
Interactor | WBInteraction000003413 | ||||
WBInteraction000003414 | |||||
WBInteraction000003415 | |||||
WBInteraction000003416 | |||||
WBInteraction000503643 | |||||
WBInteraction000521604 | |||||
WBInteraction000554842 | |||||
WBInteraction000554843 | |||||
WBInteraction000554844 | |||||
WBInteraction000569170 | |||||
Genetics | Interpolated_map_position | X | 6.71664 | ||
Description | Phenotype (7) | ||||
Phenotype_not_observed (5) | |||||
Reference (16) | |||||
Remark | ks5 is mutated at the splice donor site at exon 5 (G->A) [030414 ck1] | ||||
Method | Substitution_allele |