RGD:38474582 Rat Genome Database

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Variant: RGD:38474582 -  Homo sapiens

RGD ID: 38474582
RS ID: rs776995364
ClinVar ID: CV931567
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC129660723  SPR  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 73,115,501
GRCh38 2 72,888,372
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.12:g.72888372C>G
NC_000002.11:g.73115501C>G
NM_003124.4:c.363C>G
NP_003115.1:p.Asn121Lys
More... 		06/12/2019 missense variant uncertain significance Dystonia; none provided
Disease Annotations     Click to see Annotation Detail View
dystonia  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Dystonia  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:SPR
Accession:NM_003124
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 121
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEGGLGRAVCLLTGASRGFGRTLAPLLASLLSPGSVLVLSARNDEALRQLEAELGAERSGLRVVRVPADLGAEAGLQQLL
GALRELPRPKGLQRLLLINNAGSLGDVSKGFVDLSDSTQVKNYWALNLTSMLCLTSSVLKAFPDSPGLNRTVVNISSLCA
LQPFKGWALYCAGKAARDMLFQVLALEEPNVRVLNYAPGPLDTDMQQLARETSVDPDMRKGLQELKAKGKLVDCKVSAQK
LLSLLEKDEFKSGAHVDFYDK*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001203877 CLINVAR
  RCV001751376 CLINVAR
dbSNP (RS) rs776995364 CLINVAR
MedGen C0013421 CLINVAR
  CN517202 CLINVAR
NCBI Gene SPR CLINVAR
OMIM 182125 CLINVAR