RGD:155975120 Rat Genome Database

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Variant: RGD:155975120 -  Homo sapiens

RGD ID: 155975120
ClinVar ID: CV2341507
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OR51B5  OR51Q1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 5,444,269
GRCh38 11 5,423,039
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.-359-76129T>C
NM_001004757.2:c.839A>G
NC_000011.10:g.5423039A>G
NC_000011.9:g.5444269A>G
More... 		08/17/2022 intron variant uncertain significance AllHighlyPenetrant

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

Gene Symbol:OR51Q1
Accession:NM_001004757
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 280
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQVTNTTQEGIYFILTDIPGFEASHIWISIPVCCLYTISIMGNTTILTVIRTEPSVHQRMYLFLSMLALTDLGLTLTTL
PTVMQLLWFNVRRISSEACFAQFFFLHGFSFMESSVLLAMSVDCYVAICCPLHYASILTNEVIGRTGLAIICCCVLAVLP
SLFLLKRLPFCHSHLLSRSYCLHQDMIRLVCADIRLNSWYGFALALLIIIVDPLLIVISYTLILKNILGTATWAERLRAL
NNCLSHILAVLVLYIPMVGVSMTHRFAKHASPLVHVIMASIYLLAPPVMNPIIYSVKNKQIQWGMLNFLSLKNMHSR*

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 RCV004188900 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene OR51B5 CLINVAR
  OR51Q1 CLINVAR