RGD:28883626 Rat Genome Database

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Variant: RGD:28883626 -  Homo sapiens

RGD ID: 28883626
RS ID: rs909119773
ClinVar ID: CV903048
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130068202  RP2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 46,696,501
GRCh38 X 46,837,066
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006915.3:c.-35A>G
NG_009107.1:g.5155A>G
NC_000023.11:g.46837066A>G
NC_000023.10:g.46696501A>G
More...
01/13/2018 5 prime utr variant uncertain significance Tapetoretinal degeneration
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:RP2
Accession:NM_006915
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001168265 CLINVAR
dbSNP (RS) rs909119773 CLINVAR
MedGen C0035334 CLINVAR
NCBI Gene LOC130068202 CLINVAR
  RP2 CLINVAR
OMIM 268000 CLINVAR
  300757 CLINVAR
SNOMED CT 28835009 CLINVAR