RGD:156260801 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:156260801 -  Homo sapiens

RGD ID: 156260801
ClinVar ID: CV2287450
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC105375005  OR14J1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 29,275,118
GRCh38 6 29,307,341
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_030876.1:c.*47890G>A
NM_030946.2:c.652C>T
NC_000006.12:g.29307341C>T
NC_000006.11:g.29275118C>T
More...
06/24/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:OR14J1
Accession:NM_030946
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 218
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVNLTSMSGFLLMGFSDERKLQILHALVFLVTYLLALTGNLLIITIITVDRRLHSPMYYFLKHLSLLDLCFISVTVPQSI
ANSLMGNGYISLVQCILQVFFFIALASSEVAILTVMSYDRYAAICQPLHYETIMDPRACRHAVIAVWIAGGLSGLMHAAI
NFSIPLCGKRVIHQFFCDVPQMLKLACSYEFINEIALAAFTTSAAFICLISIVLSYICIFSTVLRIPSAEGRTKVFSTCL
PHLFVATFFLSAAGFEFLRLPSDSSSTVDLVFSVFYTVIPPTLNPVIYSLRNDSMKAALRKMLSKEELPQRKMCLKAMFK
L*

Gene Symbol:LOC105375005
Accession:XR_001744074
Location:INTRON;NON-CODING

Gene Symbol:LOC105375005
Accession:XR_001744075
Location:INTRON;NON-CODING

Gene Symbol:LOC105375005
Accession:XR_926670
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002855407 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene OR14J1 CLINVAR