RGD:401746110 Rat Genome Database

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Variant: RGD:401746110 -  Homo sapiens

RGD ID: 401746110
ClinVar ID: CV2678453
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OR51B5  OR52D1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 5,510,418
GRCh38 11 5,489,188
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+16381G>A
NM_001005163.2:c.482C>T
NC_000011.10:g.5489188C>T
NC_000011.9:g.5510418C>T
More... 		05/15/2023 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: P to L (nonsynonymous)
Amino Acid Position: 161
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDSNLSDNHLPDTFFLTGIPGLEAAHFWIAIPFCAMYLVALVGNAALILVIAMDNALHAPMYLFLCLLSLTDLALSSTT
VPKMLAILWLHAGEISFGGCLAQMFCVHSIYALESSILLAMAFDRYVAICNPLRYTTILNHAVIGRIGFVGLFRSVAIVS
LFIFLLRRLPYCGHRVMTHTYCEHMGIARLACANITVNIVYGLTVALLAMGLDSILIAISYGFILHAVFHLPSHDAQHKA
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 RCV003270208 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene OR51B5 CLINVAR
  OR52D1 CLINVAR