WormBase Tree Display for Variation: WBVar00143348
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WBVar00143348 | Evidence | Paper_evidence | WBPaper00031592 | ||||
---|---|---|---|---|---|---|---|
Name (3) | |||||||
Sequence_details | SMap | S_parent | Sequence | C11D2 | |||
Flanking_sequences | attttcagattgtgctctccctgttcgttg | cgtaattcttgataacttggaaatggacga | |||||
Mapping_target | C11D2 | ||||||
Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00031592 | ||
SeqStatus | Sequenced | ||||||
Variation_type | Allele | ||||||
Origin | Species | Caenorhabditis elegans | |||||
Strain | WBStrain00006352 | ||||||
Laboratory | CB | ||||||
Status | Live | ||||||
Affects | Gene | WBGene00006809 | |||||
Transcript | C11D2.6b.1 (12) | ||||||
C11D2.6i.1 (12) | |||||||
C11D2.6a.1 (12) | |||||||
C11D2.6l.1 (12) | |||||||
C11D2.6e.1 (12) | |||||||
C11D2.6g.1 (12) | |||||||
C11D2.6m.1 (12) | |||||||
C11D2.6k.1 (12) | |||||||
C11D2.6o.1 (12) | |||||||
C11D2.6p.1 (12) | |||||||
C11D2.6f.1 | VEP_consequence | missense_variant | |||||
VEP_impact | MODERATE | ||||||
SIFT | 0 | deleterious | |||||
PolyPhen | 0.999 | probably_damaging | |||||
HGVSc | C11D2.6f.1:c.1748C>T | ||||||
HGVSp | CE48950:p.Ala583Val | ||||||
cDNA_position | 1748 | ||||||
CDS_position | 1748 | ||||||
Protein_position | 583 | ||||||
Exon_number | 10/26 | ||||||
Codon_change | gCc/gTc | ||||||
Amino_acid_change | A/V | ||||||
C11D2.6d.1 (12) | |||||||
C11D2.6c.1 (12) | |||||||
C11D2.6h.1 (12) | |||||||
C11D2.6n.1 (12) | |||||||
C11D2.6j.1 (12) | |||||||
Genetics | Interpolated_map_position | IV | 3.06177 | ||||
Mapping_data | In_2_point | 323 | |||||
In_multi_point | 1422 | ||||||
Description | Phenotype (27) | ||||||
Phenotype_not_observed | WBPhenotype:0000641 | Person_evidence | WBPerson261 | ||||
Curator_confirmed | WBPerson712 | ||||||
Remark | active | Person_evidence | WBPerson261 | ||||
Curator_confirmed | WBPerson712 | ||||||
Disease_info | Models_disease | DOID:0081048 | |||||
Models_disease_in_annotation | WBDOannot00001105 | ||||||
Reference | WBPaper00043908 | ||||||
WBPaper00000031 | |||||||
WBPaper00031592 | |||||||
WBPaper00025465 | |||||||
WBPaper00064938 | |||||||
Method | Substitution_allele |