RGD:13541257 Rat Genome Database

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Variant: RGD:13541257 -  Homo sapiens

RGD ID: 13541257
RS ID: rs113668841
ClinVar ID: CV500123
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPR  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 73,118,519
GRCh38 2 72,891,390
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008234.1:g.9008C>T
NC_000002.12:g.72891390C>T
NC_000002.11:g.73118519C>T
NP_003115.1:p.Ser213=
More... 		10/29/2018 synonymous variant likely benign 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: S to S (synonymous)
Amino Acid Position: 213
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 RCV000630736 CLINVAR
  RCV001707808 CLINVAR
dbSNP (RS) rs113668841 CLINVAR
MedGen C0013421 CLINVAR
  C3661900 CLINVAR
NCBI Gene SPR CLINVAR
OMIM 182125 CLINVAR