WormBase Tree Display for Variation: WBVar00242453
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| WBVar00242453 | Evidence | Paper_evidence | WBPaper00032261 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | sa3 | |||||
| Other_name | CE31607:p.Arg232Gln | ||||||
| T14B1.2.1:c.695G>A | |||||||
| HGVSg | CHROMOSOME_X:g.9651569C>T | ||||||
| Sequence_details | SMap | S_parent | Sequence | F34H10 | |||
| Flanking_sequences | tatggactttcttcacgtgtcttccgtatc | gctcttgtacctattcagtattttttgtgg | |||||
| Mapping_target | F34H10 | ||||||
| Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00032261 | ||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Strain | WBStrain00022768 | ||||||
| Laboratory | JT | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00000085 | |||||
| Transcript | T14B1.2.1 (12) | ||||||
| Genetics | Interpolated_map_position | X | 1.42489 | ||||
| Mapping_data | In_2_point | 6026 | |||||
| 6028 | |||||||
| In_multi_point (15) | |||||||
| In_pos_neg_data | 6725 | ||||||
| Description | Phenotype | WBPhenotype:0000204 | Paper_evidence | WBPaper00042242 | |||
| Curator_confirmed | WBPerson557 | ||||||
| Remark | Mutant shows mild defects in aBoc steps. | Paper_evidence | WBPaper00042242 | ||||
| Curator_confirmed | WBPerson557 | ||||||
| WBPhenotype:0000625 | Paper_evidence | WBPaper00064204 | |||||
| Curator_confirmed | WBPerson7196 | ||||||
| WBPhenotype:0000650 | Person_evidence | WBPerson261 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | defecation defective | Person_evidence | WBPerson261 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| WBPhenotype:0000651 | Person_evidence | WBPerson261 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | severely constipated | Person_evidence | WBPerson261 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| WBPhenotype:0000996 | Person_evidence | WBPerson261 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | expulsion muscle contraction (Exp) nearly always absent | Person_evidence | WBPerson261 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| WBPhenotype:0001476 | Person_evidence | WBPerson261 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | anterior body contraction (aBoc) either absent or mistimed, adult male unaffected and mates well. | Person_evidence | WBPerson261 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| Phenotype_not_observed | WBPhenotype:0000157 | Paper_evidence | WBPaper00042242 | ||||
| Curator_confirmed | WBPerson557 | ||||||
| Reference | WBPaper00042242 | ||||||
| WBPaper00015646 | |||||||
| WBPaper00017676 | |||||||
| WBPaper00016737 | |||||||
| WBPaper00064204 | |||||||
| Method | Substitution_allele |
