WormBase Tree Display for Variation: WBVar00143705
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WBVar00143705 | Evidence | Paper_evidence | WBPaper00004275 | |||
---|---|---|---|---|---|---|
Name | Public_name | e1048 | ||||
Other_name | e1048sd | |||||
JC8.10a.1:c.2143G>A | ||||||
CE28239:p.Gly715Arg | ||||||
CE29050:p.Gly721Arg | ||||||
JC8.10b.1:c.2161G>A | ||||||
HGVSg | CHROMOSOME_IV:g.13265339C>T | |||||
Sequence_details | SMap | S_parent | Sequence | JC8 | ||
Flanking_sequences | attgactcgcatgacgtcatattttggttg | gagatttcaactatcgaattaatttgtcgg | ||||
Mapping_target | JC8 | |||||
Type_of_mutation | Substitution | g | a | |||
SeqStatus | Sequenced | |||||
Variation_type | Allele | |||||
Origin | Species | Caenorhabditis elegans | ||||
Laboratory | CB | |||||
Status | Live | |||||
Affects | Gene | WBGene00006763 | ||||
Transcript | JC8.10b.1 | VEP_consequence | missense_variant | |||
VEP_impact | MODERATE | |||||
SIFT | 0 | deleterious | ||||
PolyPhen | 1 | probably_damaging | ||||
HGVSc | JC8.10b.1:c.2161G>A | |||||
HGVSp | CE29050:p.Gly721Arg | |||||
cDNA_position | 2166 | |||||
CDS_position | 2161 | |||||
Protein_position | 721 | |||||
Exon_number | 8/12 | |||||
Codon_change | Gga/Aga | |||||
Amino_acid_change | G/R | |||||
JC8.10a.1 (12) | ||||||
Genetics | Interpolated_map_position | IV | 8.5125 | |||
Description | Phenotype (6) | |||||
Reference | WBPaper00004275 | |||||
WBPaper00013791 | ||||||
WBPaper00001303 | ||||||
Method | Substitution_allele |