RGD:15190780 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Variant: RGD:15190780 -  Homo sapiens

RGD ID: 15190780
RS ID: rs35504166
ClinVar ID: CV726837
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WFDC1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 84,358,048
GRCh38 16 84,324,442
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001282467.2:c.583C>G
NM_001282466.2:c.586C>G
NM_021197.4:c.586C>G
NC_000016.10:g.84324442C>G
More... 		02/26/2018 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:WFDC1
Accession:NM_001282467
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 195
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLTGVGPGSCRRQIIRALCLLLLLLHAGSAKNIWKRALPARLAEKSRAEEAGAPGGPRQPRADRCPPPPRTLPPGACQA
ARCQADSECPRHRRCCYNGCAYACLEAVPPPPVLDWLVQPKPRWLGGNGWLLDGPEEVLQEACSTTEDGAEPLLCPSGYE
CHILSPGDVAEGIPNRGQCVKQRRQADGRILRHKVYKEYPEGDSKNVAEPGRGQQKHFQ*

Gene Symbol:WFDC1
Accession:NM_021197
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 196
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLTGVGPGSCRRQIIRALCLLLLLLHAGSAKNIWKRALPARLAEKSRAEEAGAPGGPRQPRADRCPPPPRTLPPGACQA
ARCQADSECPRHRRCCYNGCAYACLEAVPPPPVLDWLVQPKPRWLGGNGWLLDGPEEVLQAEACSTTEDGAEPLLCPSGY
ECHILSPGDVAEGIPNRGQCVKQRRQADGRILRHKVYKEYPEGDSKNVAEPGRGQQKHFQ*

Gene Symbol:WFDC1
Accession:NM_001282466
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 196
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLTGVGPGSCRRQIIRALCLLLLLLHAGSAKNIWKRALPARLAEKSRAEEAGAPGGPRQPRADRCPPPPRTLPPGACQA
ARCQADSECPRHRRCCYNGCAYACLEAVPPPPVLDWLVQPKPRWLGGNGWLLDGPEEVLQAEACSTTEDGAEPLLCPSGY
ECHILSPGDVAEGIPNRGQCVKQRRQADGRILRHKVYKEYPEGDSKNVAEPGRGQQKHFQ*

Gene Symbol:WFDC1
Accession:XM_047434411
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 168
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLTGVGPGSCRRQIIRALCLLLLLLHAGSAKNIWKRALPARLAEKSRAEEAGAPGGPRQPRADRCPPPPRTLPPGACQA
ARCQADSECPRHRRCCYNGCAYACLEAVPPPPAEACSTTEDGAEPLLCPSGYECHILSPGDVAEGIPNRGQCVKQRRQAD
GRILRHKVYKEYPEGDSKNVAEPGRGQQKHFQ*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000888195 CLINVAR
dbSNP (RS) rs35504166 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene WFDC1 CLINVAR
OMIM 605322 CLINVAR