RGD:401859324 Rat Genome Database

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Variant: RGD:401859324 -  Homo sapiens

RGD ID: 401859324
ClinVar ID: CV2786916
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OR51B5  OR52D1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 5,510,157
GRCh38 11 5,488,927
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+16642A>G
NM_001005163.2:c.221T>C
NC_000011.10:g.5488927T>C
NC_000011.9:g.5510157T>C
More... 		09/13/2023 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:OR52D1
Accession:NM_001005163
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 74
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDSNLSDNHLPDTFFLTGIPGLEAAHFWIAIPFCAMYLVALVGNAALILVIAMDNALHAPMYLFLCLLSLTDPALSSTT
VPKMLAILWLHAGEISFGGCLAQMFCVHSIYALESSILLAMAFDRYVAICNPLRYTTILNHAVIGRIGFVGLFRSVAIVS
PFIFLLRRLPYCGHRVMTHTYCEHMGIARLACANITVNIVYGLTVALLAMGLDSILIAISYGFILHAVFHLPSHDAQHKA
LSTCGSHIGIILVFYIPAFFSFLTHRFGHHEVPKHVHIFLANLYVLVPPVLNPILYGARTKEIRSRLLKLLHLGKTSI*

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 RCV003384020 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene OR51B5 CLINVAR
  OR52D1 CLINVAR