WormBase Tree Display for Variation: WBVar02125678
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WBVar02125678 | Evidence | Paper_evidence | WBPaper00046075 | |||
---|---|---|---|---|---|---|
Name | Public_name | mac37 | ||||
Other_name | F56C11.1.1:c.3989C>T | |||||
CE28463:p.Ala1330Val | ||||||
F56C11.1.2:c.3989C>T | ||||||
HGVSg | CHROMOSOME_I:g.147301G>A | |||||
Sequence_details | SMap | S_parent | Sequence | F56C11 | ||
Flanking_sequences | tggattatgaagttgcaataatggttggag | aggaatcggagtgactccatatgcatcgac | ||||
Mapping_target | F56C11 | |||||
Type_of_mutation | Substitution | c | t | |||
SeqStatus | Sequenced | |||||
Variation_type | Allele | |||||
Origin | Species | Caenorhabditis elegans | ||||
Strain | WBStrain00005170 | |||||
Laboratory | CSM | |||||
Status | Live | |||||
Affects | Gene | WBGene00000253 | ||||
Transcript | F56C11.1.1 | VEP_consequence | missense_variant | |||
VEP_impact | MODERATE | |||||
SIFT | 0 | deleterious | ||||
PolyPhen | 0.468 | possibly_damaging | ||||
HGVSc | F56C11.1.1:c.3989C>T | |||||
HGVSp | CE28463:p.Ala1330Val | |||||
cDNA_position | 4025 | |||||
CDS_position | 3989 | |||||
Protein_position | 1330 | |||||
Exon_number | 18/21 | |||||
Codon_change | gCa/gTa | |||||
Amino_acid_change | A/V | |||||
F56C11.1.2 | VEP_consequence | missense_variant | ||||
VEP_impact | MODERATE | |||||
SIFT | 0 | deleterious | ||||
PolyPhen | 0.468 | possibly_damaging | ||||
HGVSc | F56C11.1.2:c.3989C>T | |||||
HGVSp | CE28463:p.Ala1330Val | |||||
cDNA_position | 4025 | |||||
CDS_position | 3989 | |||||
Protein_position | 1330 | |||||
Exon_number | 18/21 | |||||
Codon_change | gCa/gTa | |||||
Amino_acid_change | A/V | |||||
Genetics | Interpolated_map_position | I | -19.1518 | |||
Reference | WBPaper00046075 | |||||
Method | Substitution_allele |