RGD:156272737 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:156272737 -  Homo sapiens

RGD ID: 156272737
ClinVar ID: CV2277582
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OR4C11  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 55,371,823
GRCh38 11 55,604,347
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001004700.3:c.27A>T
NC_000011.10:g.55604347T>A
NC_000011.9:g.55371823T>A
NM_001004700.2:c.27A>T
More...
06/24/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:OR4C11
Accession:NM_001004700
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 9
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQQNNSVPDFILLGLTQDPLRQKIVFVIFLIFYMGTVVGNMLIIVTIKSSRTLGSPMYFFLFYLSFADSCFSTSTAPRLI
VDALSEKKIITYNECMTQVFALHLFGCMEIFVLILMAVDRYVAICKPLRYPTIMSQQVCIILIVLAWIGSLIHSTAQIIL
ALRLPFCGPYLIDHYCCDLQPLLKLACMDTYMINLLLVSNSGAICSSSFMILIISYIVILHSLRNHSAKGKKKALSACTS
HIIVVILFFGPCIFIYTRPPTTFPMDKMVAVFYTIGTPFLNPLIYTLRNAEVKNAMRKLWHGKIISENKG*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002877691 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene OR4C11 CLINVAR