WormBase Tree Display for Variation: WBVar00143858
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WBVar00143858 | Evidence | Paper_evidence | WBPaper00040121 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | e1248 | |||||||
Other_name | CE43283:p.Ser454Phe | ||||||||
R166.1a.2:c.1361C>T | |||||||||
R166.1a.1:c.1361C>T | |||||||||
HGVSg | CHROMOSOME_II:g.10532754C>T | ||||||||
Sequence_details | SMap | S_parent | Sequence | R166 | |||||
Flanking_sequences | catcaatgatccacgcgtttcgcaagtatt | tgcaatttacggacgttttgacactaaacg | |||||||
Mapping_target | R166 | ||||||||
Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00040121 | ||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Strain | WBStrain00004492 | ||||||||
Laboratory | CB | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00003107 | |||||||
Transcript (2) | |||||||||
Genetics | Interpolated_map_position | II | 3.07443 | ||||||
Mapping_data | In_multi_point | 1392 | |||||||
1393 | |||||||||
1394 | |||||||||
1395 | |||||||||
In_pos_neg_data | 3356 | ||||||||
3671 | |||||||||
3674 | |||||||||
3788 | |||||||||
3789 | |||||||||
3790 | |||||||||
Description | Phenotype | WBPhenotype:0000446 | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | some adult males have supernumerary molt, second adult cuticle | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Life_stage | WBls:0000056 | PATO:0000460 | Person_evidence | WBPerson261 | ||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000506 | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | adult male has slightly swollen bursa. e1248/Df more severe. | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Ease_of_scoring | ES2_Difficult_to_score | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000697 | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Hermaphrodite has slightly protruding vulva. | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0001364 | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | reduced fan, thin rays | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Reference | WBPaper00040121 | ||||||||
WBPaper00014014 | |||||||||
Method | Substitution_allele |