RGD:14696608 Rat Genome Database

RGD ID:

14696608

RS ID:

rs1561500920

ClinVar ID:

CV622782

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	5	70,241,993
GRCh38	5	70,946,166

JBrowse:

Model

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_000344.3:c.824G>A LRG_676t1:c.824G>A NC_000005.10:g.70946166G>A NC_000005.9:g.70241993G>A More...	02/26/2016	missense variant	likely pathogenic	none provided

Variant Details

Variant Transcripts

Gene Symbol:	SMN1
Accession:	XM_011543597
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	208

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAMSSGGSGGGVPEQEDSVLFRRGTGQSDDSDIWDDTALIKAYDKAVASFKHALKNGDICETSGKPKTTPKRKPAKKNKS QKKNTAASLQQNENESQVSTDESENSRSPGNKSDNIKPKSAPWNSFLPPPPPMPGPRLGPGKPGLKFNGPPPPPPPPPPH LLSCWLPPFPSGPPIIPPPPPICPDSLDDADALGSMLISWYMSGYHTDYYMGFRQNQKEGRCSHSLN*

Gene Symbol:	SMN1
Accession:	XM_017009786
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	243

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAMSSGGSGGGVPEQEDSVLFRRGTGQSDDSDIWDDTALIKAYDKAVASFKHALKNGDICETSGKPKTTPKRKPAKKNKS QKKNTAASLQQWKVGDKCSAIWSEDGCIYPATIASIDFKRETCVVVYTGYGNREEQNLSDLLSPICEVANNIEQNAQENE NESQVSTDESENSRSPGNKSDNIKPKSAPWNSFLPPPPPMPGPRLGPGKIIPPPPPICPDSLDDADALGSMLISWYMSGY HTDYYMEMLA*

Gene Symbol:	SMN1
Accession:	XM_047417618
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	208

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAMSSGGSGGGVPEQEDSVLFRRGTGQSDDSDIWDDTALIKAYDKAVASFKHALKNGDICETSGKPKTTPKRKPAKKNKS QKKNTAASLQQNENESQVSTDESENSRSPGNKSDNIKPKSAPWNSFLPPPPPMPGPRLGPGKPGLKFNGPPPPPPPPPPH LLSCWLPPFPSGPPIIPPPPPICPDSLDDADALGSMLISWYMSGYHTDYYMEMLA*

Gene Symbol:	SMN1
Accession:	XM_047417615
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	275

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAMSSGGSGGGVPEQEDSVLFRRGTGQSDDSDIWDDTALIKAYDKAVASFKHALKNGDICETSGKPKTTPKRKPAKKNKS QKKNTAASLQQWKVGDKCSAIWSEDGCIYPATIASIDFKRETCVVVYTGYGNREEQNLSDLLSPICEVANNIEQNAQENE NESQVSTDESENSRSPGNKSDNIKPKSAPWNSFLPPPPPMPGPRLGPGKPGLKFNGPPPPPPPPPPHLLSCWLPPFPSGP PIIPPPPPICPDSLDDADALGSMLISWYMSGYHTDYYMFPEASLKAEQMPAPCFL*

Gene Symbol:	SMN1
Accession:	NM_022874
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	243

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAMSSGGSGGGVPEQEDSVLFRRGTGQSDDSDIWDDTALIKAYDKAVASFKHALKNGDICETSGKPKTTPKRKPAKKNKS QKKNTAASLQQWKVGDKCSAIWSEDGCIYPATIASIDFKRETCVVVYTGYGNREEQNLSDLLSPICEVANNIEQNAQENE NESQVSTDESENSRSPGNKSDNIKPKSAPWNSFLPPPPPMPGPRLGPGKIIPPPPPICPDSLDDADALGSMLISWYMSGY HTDYYMGFRQNQKEGRCSHSLN*

Gene Symbol:	SMN1
Accession:	NM_001297715
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	275

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAMSSGGSGGGVPEQEDSVLFRRGTGQSDDSDIWDDTALIKAYDKAVASFKHALKNGDICETSGKPKTTPKRKPAKKNKS QKKNTAASLQQWKVGDKCSAIWSEDGCIYPATIASIDFKRETCVVVYTGYGNREEQNLSDLLSPICEVANNIEQNAQENE NESQVSTDESENSRSPGNKSDNIKPKSAPWNSFLPPPPPMPGPRLGPGKPGLKFNGPPPPPPPPPPHLLSCWLPPFPSGP PIIPPPPPICPDSLDDADALGSMLISWYMSGYHTDYYMEMLA*

Gene Symbol:	SMN1
Accession:	NM_000344
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	275

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAMSSGGSGGGVPEQEDSVLFRRGTGQSDDSDIWDDTALIKAYDKAVASFKHALKNGDICETSGKPKTTPKRKPAKKNKS QKKNTAASLQQWKVGDKCSAIWSEDGCIYPATIASIDFKRETCVVVYTGYGNREEQNLSDLLSPICEVANNIEQNAQENE NESQVSTDESENSRSPGNKSDNIKPKSAPWNSFLPPPPPMPGPRLGPGKPGLKFNGPPPPPPPPPPHLLSCWLPPFPSGP PIIPPPPPICPDSLDDADALGSMLISWYMSGYHTDYYMGFRQNQKEGRCSHSLN*

Gene Symbol:	SMN1
Accession:	XM_011543596
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	275

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAMSSGGSGGGVPEQEDSVLFRRGTGQSDDSDIWDDTALIKAYDKAVASFKHALKNGDICETSGKPKTTPKRKPAKKNKS QKKNTAASLQQWKVGDKCSAIWSEDGCIYPATIASIDFKRETCVVVYTGYGNREEQNLSDLLSPICEVANNIEQNAQENE NESQVSTDESENSRSPGNKSDNIKPKSAPWNSFLPPPPPMPGPRLGPGKPGLKFNGPPPPPPPPPPHLLSCWLPPFPSGP PIIPPPPPICPDSLDDADALGSMLISWYMSGYHTDYYMTGFHCVSQDGLNLLTP*

Gene Symbol:	SMN1
Accession:	XM_047417616
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	243

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAMSSGGSGGGVPEQEDSVLFRRGTGQSDDSDIWDDTALIKAYDKAVASFKHALKNGDICETSGKPKTTPKRKPAKKNKS QKKNTAASLQQWKVGDKCSAIWSEDGCIYPATIASIDFKRETCVVVYTGYGNREEQNLSDLLSPICEVANNIEQNAQENE NESQVSTDESENSRSPGNKSDNIKPKSAPWNSFLPPPPPMPGPRLGPGKIIPPPPPICPDSLDDADALGSMLISWYMSGY HTDYYMGFRQNQKEGRCSHSLN*

Variant Samples

Additional References at PubMed

PMID:25741868

Additional Information

External Database Links

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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