RGD:15104532 Rat Genome Database

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Variant: RGD:15104532 -  Homo sapiens

RGD ID: 15104532
RS ID: rs961265501
ClinVar ID: CV781447
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPR  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 73,114,657
GRCh38 2 72,887,528
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003124.5:c.96G>T
NG_008234.1:g.5146G>T
NC_000002.12:g.72887528G>T
NC_000002.11:g.73114657G>T
More... 		10/15/2018 synonymous variant likely benign Dystonia
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: S to S (synonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEGGLGRAVCLLTGASRGFGRTLAPLLASLLSPGSVLVLSARNDEALRQLEAELGAERSGLRVVRVPADLGAEAGLQQLL
GALRELPRPKGLQRLLLINNAGSLGDVSKGFVDLSDSTQVNNYWALNLTSMLCLTSSVLKAFPDSPGLNRTVVNISSLCA
LQPFKGWALYCAGKAARDMLFQVLALEEPNVRVLNYAPGPLDTDMQQLARETSVDPDMRKGLQELKAKGKLVDCKVSAQK
LLSLLEKDEFKSGAHVDFYDK*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001422105 CLINVAR
dbSNP (RS) rs961265501 CLINVAR
MedGen C0013421 CLINVAR
NCBI Gene LOC129934069 CLINVAR
  SPR CLINVAR
OMIM 182125 CLINVAR