WormBase Tree Display for Variation: WBVar00248902
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WBVar00248902 | Name | Public_name | sy66 | ||||||
---|---|---|---|---|---|---|---|---|---|
Other_name | CE24899:p.Ile103Asn | ||||||||
F14F3.1a.2:c.308T>A | |||||||||
F14F3.1a.1:c.308T>A | |||||||||
HGVSg | CHROMOSOME_X:g.10511197T>A | ||||||||
Sequence_details | SMap | S_parent | Sequence | F14F3 | |||||
Flanking_sequences | gtgaccaacctagcatttttgcatgggaaa | cagagataaactgctagctgataatatctg | |||||||
Mapping_target | F14F3 | ||||||||
Type_of_mutation | Substitution | t | a | Paper_evidence | WBPaper00002236 | ||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Laboratory | PS | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00006870 | |||||||
Transcript | F14F3.1a.1 (12) | ||||||||
F14F3.1a.2 | VEP_consequence | missense_variant | |||||||
VEP_impact | MODERATE | ||||||||
SIFT | 0 | deleterious | |||||||
PolyPhen | 0.974 | probably_damaging | |||||||
HGVSc | F14F3.1a.2:c.308T>A | ||||||||
HGVSp | CE24899:p.Ile103Asn | ||||||||
cDNA_position | 400 | ||||||||
CDS_position | 308 | ||||||||
Protein_position | 103 | ||||||||
Exon_number | 5/13 | ||||||||
Codon_change | aTc/aAc | ||||||||
Amino_acid_change | I/N | ||||||||
Isolation | Mutagen | EMS | Paper_evidence | WBPaper00002236 | |||||
Genetics | Interpolated_map_position | X | 2.22423 | ||||||
Description | Phenotype | WBPhenotype:0000216 | Paper_evidence | WBPaper00002228 | |||||
Curator_confirmed | WBPerson625 | ||||||||
Remark | Cell fate specification (B lineage) | Paper_evidence | WBPaper00002228 | ||||||
Curator_confirmed | WBPerson625 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0008608 | PATO:0000460 | Paper_evidence | WBPaper00002228 | ||||
Curator_confirmed | WBPerson625 | ||||||||
WBPhenotype:0000409 | Paper_evidence | WBPaper00002228 | |||||||
Curator_confirmed | WBPerson625 | ||||||||
Remark | Vab | Paper_evidence | WBPaper00002228 | ||||||
Curator_confirmed | WBPerson625 | ||||||||
WBPhenotype:0000443 | Paper_evidence | WBPaper00002228 | |||||||
Curator_confirmed | WBPerson625 | ||||||||
Remark | spicule morphology variant | Paper_evidence | WBPaper00002228 | ||||||
Curator_confirmed | WBPerson625 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0005312 | PATO:0000460 | Paper_evidence | WBPaper00002228 | ||||
Curator_confirmed | WBPerson625 | ||||||||
Reference | WBPaper00014208 | ||||||||
WBPaper00014973 | |||||||||
WBPaper00002228 | |||||||||
WBPaper00014314 | |||||||||
Method | Substitution_allele |