RGD:401739705 Rat Genome Database

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Variant: RGD:401739705 -  Homo sapiens

RGD ID: 401739705
ClinVar ID: CV2684147
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OR2T11  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 248,790,276
GRCh38 1 248,626,975
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001001964.2:c.154C>A
NC_000001.11:g.248626975G>T
NC_000001.10:g.248790276G>T
NM_001001964.1:c.154C>A
More... 		05/31/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:OR2T11
Accession:NM_001001964
Location:EXON
Amino Acid Prediction: L to I (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTNTSSSDFTLLGLLVNSEAAGIVFTVILAVFLGAVTANLVMIFLIQVDSRIHTPMYFLLSQLSIMDTLFICTTVPKLLA
DMVSKEKIISFVACGIQIFLYLTMIGSEFFLLGLMAYDCYVAVCNPLRYPVLMNRKKCLLLAAGAWFGGSLDGFLLTPIT
MNVPYCGSRSINHFFCEIPAVLKLACADTSLYETLMYICCVLMLLIPISIISTSYSLILLTIHRMPSAEGRKKAFTTCSS
HLTVVSIFYGAAFYTYVLPQSFHTPEQDKVVSAFYTIVTPMLNPLIYSLRNKDVIGAFKKVFACCSSAQKVATSDA*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003240452 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene OR2T11 CLINVAR