RGD:401859014 Rat Genome Database

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Variant: RGD:401859014 -  Homo sapiens

RGD ID: 401859014
ClinVar ID: CV2791308
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC105375005  OR14J1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 29,274,652
GRCh38 6 29,306,875
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.*48356C>A
NM_030946.2:c.186G>T
NC_000006.12:g.29306875G>T
NC_000006.11:g.29274652G>T
More... 		08/02/2023 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: K to N (nonsynonymous)
Amino Acid Position: 62
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVNLTSMSGFLLMGFSDERKLQILHALVFLVTYLLALTGNLLIITIITVDRRLHSPMYYFLNHLSLLDLCFISVTVPQSI
ANSLMGNGYISLVQCILQVFFFIALASSEVAILTVMSYDRYAAICQPLHYETIMDPRACRHAVIAVWIAGGLSGLMHAAI
NFSIPLCGKRVIHQFFCDVPQMLKLACSYEFINEIALAAFTTSAAFICLISIVLSYIRIFSTVLRIPSAEGRTKVFSTCL
PHLFVATFFLSAAGFEFLRLPSDSSSTVDLVFSVFYTVIPPTLNPVIYSLRNDSMKAALRKMLSKEELPQRKMCLKAMFK
L*

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003379097 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene OR14J1 CLINVAR