WormBase Tree Display for Variation: WBVar00142933
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WBVar00142933 | Evidence | Paper_evidence | WBPaper00002646 | |||
---|---|---|---|---|---|---|
Name | Public_name | e49 | ||||
Other_name | n49 | Paper_evidence | WBPaper00043983 | |||
CE04840:p.Ala546Thr | ||||||
CE48967:p.Ala585Thr | ||||||
CE49123:p.Ala587Thr | ||||||
R13A1.4c.1:c.1759G>A | ||||||
R13A1.4a.1:c.1756G>A | ||||||
CE26381:p.Ala586Thr | ||||||
R13A1.4b.1:c.1753G>A | ||||||
R13A1.4d.1:c.1636G>A | ||||||
HGVSg | CHROMOSOME_IV:g.7202315G>A | |||||
Sequence_details (5) | ||||||
Variation_type | Allele | |||||
Origin | Species | Caenorhabditis elegans | ||||
Strain | WBStrain00004085 | |||||
WBStrain00006265 | ||||||
WBStrain00006267 | ||||||
WBStrain00026634 | ||||||
WBStrain00026871 | ||||||
WBStrain00026874 | ||||||
WBStrain00026936 | ||||||
Laboratory | CB | |||||
Status | Live | |||||
Affects | Gene | WBGene00006748 | ||||
Transcript | R13A1.4d.1 (12) | |||||
R13A1.4c.1 (12) | ||||||
R13A1.4a.1 | VEP_consequence | missense_variant | ||||
VEP_impact | MODERATE | |||||
SIFT | 0.02 | deleterious | ||||
PolyPhen | 0.651 | possibly_damaging | ||||
HGVSc | R13A1.4a.1:c.1756G>A | |||||
HGVSp | CE26381:p.Ala586Thr | |||||
cDNA_position | 1756 | |||||
CDS_position | 1756 | |||||
Protein_position | 586 | |||||
Exon_number | 16/21 | |||||
Codon_change | Gcg/Acg | |||||
Amino_acid_change | A/T | |||||
R13A1.4b.1 (12) | ||||||
Genetics | Interpolated_map_position | IV | 3.29389 | |||
Mapping_data | In_2_point | 107 | ||||
In_multi_point (24) | ||||||
In_pos_neg_data | 2737 | |||||
3701 | ||||||
5318 | ||||||
Description | Phenotype (3) | |||||
Reference (12) | ||||||
Remark | n49 is a typo of e49 | Paper_evidence | WBPaper00043983 | |||
Method | Substitution_allele |