RGD:401743804 Rat Genome Database

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Variant: RGD:401743804 -  Homo sapiens

RGD ID: 401743804
ClinVar ID: CV2713569
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OR51B5  OR51I2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 5,475,148
GRCh38 11 5,453,918
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001005567.3:c.-360+51651T>C
NC_000011.9:g.5475148A>G
NR_178068.1:n.702A>G
NM_001004754.2:c.430A>G
More... 		05/09/2023 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:OR51B5
Accession:NM_001005567
Location:5UTRS;INTRON

Gene Symbol:OR51I2
Accession:NM_001004754
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 144
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLFNVTHPAFFLLTGIPGLESSHSWLSGPLCVMYAVALGGNTVILQAVRVEPSLHEPMYYFLSMLSFSDVAISMATLPT
VLRTFCLNARNITFDACLIQMFLIHFFSMMESGILLAMSFDRYVAICDPLRYATVLTTEVIAAVGLGAAARSFITLFPLP
FLIKRLPICRSNVLSHSYCLHPDMMRLACADISINSIYGLFVLVSTFGMDLFFIFLSYVLILRSVMATASREERLKALNT
CVSHILAVLAFYVPMIGVSTVHRFGKHVPCYIHVLMSNVYLFVPPVLNPLIYSAKTKEIRRAIFRMFHHIKI*

Gene Symbol:OR51B5
Accession:NM_001395252
Location:INTRON

Gene Symbol:OR51B5
Accession:NR_038321
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003242647 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene OR51B5 CLINVAR
  OR51I2 CLINVAR