WormBase Tree Display for Variation: WBVar00248959
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WBVar00248959 | Name | Public_name | sy281 | ||||||
---|---|---|---|---|---|---|---|---|---|
Other_name | F14F3.1a.1:c.55G>A | ||||||||
F14F3.1a.2:c.55G>A | |||||||||
CE24899:p.Gly19Arg | |||||||||
HGVSg | CHROMOSOME_X:g.10509500G>A | ||||||||
Sequence_details | SMap | S_parent | Sequence | F14F3 | |||||
Flanking_sequences | gtgaatcaacttggaggcgtatttgttaat | ggcgtccactcccggatgcaacacgtcaaa | |||||||
Mapping_target | F14F3 | ||||||||
Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00002236 | ||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Laboratory | PS | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00006870 | |||||||
Transcript | F14F3.1a.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | ||||||||
SIFT | 0 | deleterious | |||||||
PolyPhen | 0.999 | probably_damaging | |||||||
HGVSc | F14F3.1a.1:c.55G>A | ||||||||
HGVSp | CE24899:p.Gly19Arg | ||||||||
cDNA_position | 357 | ||||||||
CDS_position | 55 | ||||||||
Protein_position | 19 | ||||||||
Exon_number | 4/14 | ||||||||
Codon_change | Ggg/Agg | ||||||||
Amino_acid_change | G/R | ||||||||
F14F3.1a.2 | VEP_consequence | missense_variant | |||||||
VEP_impact | MODERATE | ||||||||
SIFT | 0 | deleterious | |||||||
PolyPhen | 0.999 | probably_damaging | |||||||
HGVSc | F14F3.1a.2:c.55G>A | ||||||||
HGVSp | CE24899:p.Gly19Arg | ||||||||
cDNA_position | 147 | ||||||||
CDS_position | 55 | ||||||||
Protein_position | 19 | ||||||||
Exon_number | 3/13 | ||||||||
Codon_change | Ggg/Agg | ||||||||
Amino_acid_change | G/R | ||||||||
Isolation | Mutagen | EMS | Paper_evidence | WBPaper00002236 | |||||
Genetics | Interpolated_map_position | X | 2.2241 | ||||||
Description | Phenotype | WBPhenotype:0000070 | Paper_evidence | WBPaper00002236 | |||||
Curator_confirmed | WBPerson625 | ||||||||
Remark | male tail morphology variant | Paper_evidence | WBPaper00002236 | ||||||
Curator_confirmed | WBPerson625 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0005741 | PATO:0000460 | Paper_evidence | WBPaper00002236 | ||||
Curator_confirmed | WBPerson625 | ||||||||
Reference | WBPaper00002236 | ||||||||
Method | Substitution_allele |