WormBase Tree Display for Variation: WBVar02139239
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WBVar02139239 | Evidence | Paper_evidence | WBPaper00045317 | |||
---|---|---|---|---|---|---|
Name | Public_name | h5040 | ||||
Other_name (16) | ||||||
HGVSg | CHROMOSOME_X:g.4990725G>A | |||||
Sequence_details | SMap | S_parent | Sequence | ZC8 | ||
Flanking_sequences | TACTGACAAACTGCGCCGCGATCTGACCAAAGCCGAAAGC | TTGAGAATGAGCTCCGCAAAACAATCGACATTCAGAGCAA | ||||
Mapping_target | CHROMOSOME_X | |||||
Source_location | 200 | CHROMOSOME_X | 4990694 | 4990694 | ||
Type_of_mutation | Substitution | G | A | |||
SeqStatus | Sequenced | |||||
Variation_type | Allele | |||||
Origin | Species | Caenorhabditis elegans | ||||
Strain | WBStrain00023666 | |||||
Laboratory | KR | |||||
Analysis | WGS_Rose | |||||
Status | Live | |||||
Affects | Gene | WBGene00022500 | ||||
WBGene00022501 | ||||||
Transcript | ZC8.4g.1 (12) | |||||
ZC8.4a.3 (12) | ||||||
ZC8.6.1 | VEP_consequence | intron_variant | ||||
VEP_impact | MODIFIER | |||||
HGVSc | ZC8.6.1:c.564+2579C>T | |||||
Intron_number | 6/15 | |||||
ZC8.4h.1 (12) | ||||||
ZC8.4a.4 (12) | ||||||
ZC8.4d.1 (12) | ||||||
ZC8.4a.2 (12) | ||||||
ZC8.4e.1 (12) | ||||||
ZC8.4f.1 (12) | ||||||
ZC8.4a.1 | VEP_consequence | missense_variant | ||||
VEP_impact | MODERATE | |||||
SIFT | 0.59 | tolerated | ||||
PolyPhen | 0.077 | benign | ||||
HGVSc | ZC8.4a.1:c.5842G>A | |||||
HGVSp | CE31264:p.Val1948Ile | |||||
cDNA_position | 6168 | |||||
CDS_position | 5842 | |||||
Protein_position | 1948 | |||||
Exon_number | 17/22 | |||||
Codon_change | Gtt/Att | |||||
Amino_acid_change | V/I | |||||
Reference | WBPaper00040589 | |||||
WBPaper00000975 | ||||||
WBPaper00003985 | ||||||
WBPaper00000699 | ||||||
WBPaper00045317 | ||||||
Method | WGS_Rose |