RGD:401733335 Rat Genome Database

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Variant: RGD:401733335 -  Homo sapiens

RGD ID: 401733335
ClinVar ID: CV2685497
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OR7A5  OR7C1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 14,938,258
GRCh38 19 14,827,446
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_017506.1:c.796C>T
NP_001357409.1:p.Arg266Cys
NP_001357410.1:p.Arg266Cys
NP_001357411.1:p.Arg266Cys
More... 		04/08/2023 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:OR7C1
Accession:NM_001370485
Location:5UTRS;INTRON

Gene Symbol:OR7A5
Accession:NM_017506
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 266
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPGNDTQISEFLLLGFSQEPGLQPFLFGLFLSMYLVTVLGNLLIILATISDSHLHTPMYFFLSNLSFADICVTSTTIPK
MLMNIQTQNKVITYIACLMQMYFFILFAGFENFLLSVMAYDRFVAICHPLHYMVIMNPHLCGLLVLASWTMSALYSLLQI
LMVVRLSFCTALEIPHFFCELNQVIQLACSDSFLNHMVIYFTVALLGGGPLTGILYSYSKIISSIHAISSAQGKYKAFST
CASHLSVVSLFYGAILGVYLSSAATSNSHSSATASVMYTVVTPMLNPFIYSLRNKDIKRALGIHLLWGTMKGQFFKKCP*

Gene Symbol:OR7A5
Accession:NM_001370483
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 266
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPGNDTQISEFLLLGFSQEPGLQPFLFGLFLSMYLVTVLGNLLIILATISDSHLHTPMYFFLSNLSFADICVTSTTIPK
MLMNIQTQNKVITYIACLMQMYFFILFAGFENFLLSVMAYDRFVAICHPLHYMVIMNPHLCGLLVLASWTMSALYSLLQI
LMVVRLSFCTALEIPHFFCELNQVIQLACSDSFLNHMVIYFTVALLGGGPLTGILYSYSKIISSIHAISSAQGKYKAFST
CASHLSVVSLFYGAILGVYLSSAATSNSHSSATASVMYTVVTPMLNPFIYSLRNKDIKRALGIHLLWGTMKGQFFKKCP*

Gene Symbol:OR7A5
Accession:NM_001370482
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 266
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPGNDTQISEFLLLGFSQEPGLQPFLFGLFLSMYLVTVLGNLLIILATISDSHLHTPMYFFLSNLSFADICVTSTTIPK
MLMNIQTQNKVITYIACLMQMYFFILFAGFENFLLSVMAYDRFVAICHPLHYMVIMNPHLCGLLVLASWTMSALYSLLQI
LMVVRLSFCTALEIPHFFCELNQVIQLACSDSFLNHMVIYFTVALLGGGPLTGILYSYSKIISSIHAISSAQGKYKAFST
CASHLSVVSLFYGAILGVYLSSAATSNSHSSATASVMYTVVTPMLNPFIYSLRNKDIKRALGIHLLWGTMKGQFFKKCP*

Gene Symbol:OR7A5
Accession:NM_001370481
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 266
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPGNDTQISEFLLLGFSQEPGLQPFLFGLFLSMYLVTVLGNLLIILATISDSHLHTPMYFFLSNLSFADICVTSTTIPK
MLMNIQTQNKVITYIACLMQMYFFILFAGFENFLLSVMAYDRFVAICHPLHYMVIMNPHLCGLLVLASWTMSALYSLLQI
LMVVRLSFCTALEIPHFFCELNQVIQLACSDSFLNHMVIYFTVALLGGGPLTGILYSYSKIISSIHAISSAQGKYKAFST
CASHLSVVSLFYGAILGVYLSSAATSNSHSSATASVMYTVVTPMLNPFIYSLRNKDIKRALGIHLLWGTMKGQFFKKCP*

Gene Symbol:OR7A5
Accession:NM_001370480
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 266
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPGNDTQISEFLLLGFSQEPGLQPFLFGLFLSMYLVTVLGNLLIILATISDSHLHTPMYFFLSNLSFADICVTSTTIPK
MLMNIQTQNKVITYIACLMQMYFFILFAGFENFLLSVMAYDRFVAICHPLHYMVIMNPHLCGLLVLASWTMSALYSLLQI
LMVVRLSFCTALEIPHFFCELNQVIQLACSDSFLNHMVIYFTVALLGGGPLTGILYSYSKIISSIHAISSAQGKYKAFST
CASHLSVVSLFYGAILGVYLSSAATSNSHSSATASVMYTVVTPMLNPFIYSLRNKDIKRALGIHLLWGTMKGQFFKKCP*

Gene Symbol:OR7C1
Accession:NM_198944
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003249161 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene OR7A5 CLINVAR
  OR7C1 CLINVAR