rs751502439 Rat Genome Database

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Variant: rs751502439 -  Homo sapiens

RGD ID: 28882368
RS ID: rs751502439
ClinVar ID: CV887412
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SNRNP200  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 96,942,816
GRCh38 2 96,277,078
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_014014.5:c.6092+3G>A
NC_000002.11:g.96942816C>T
NM_014014.4:c.6092+3G>A
NG_016973.1:g.33482G>A
More... 		01/13/2018 intron variant uncertain significance Tapetoretinal degeneration
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV887412Humanretinitis pigmentosa  IAGP 8554872ClinVar Annotator: match by term: Retinitis pigmentosaClinVar 

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV887412HumanRod-cone dystrophy  IAGP 8554872ClinVar Annotator: match by term: Retinitis pigmentosaClinVar 
Gene Symbol:SNRNP200
Accession:NM_014014
Location:INTRON

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Database
Acc Id
Source(s)
ClinVar RCV001136609 CLINVAR
dbSNP (RS) rs751502439 CLINVAR
MedGen C0035334 CLINVAR
NCBI Gene SNRNP200 CLINVAR
OMIM 268000 CLINVAR
  601664 CLINVAR
SNOMED CT 28835009 CLINVAR