RGD:126768875 Rat Genome Database

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Variant: RGD:126768875 -  Homo sapiens

RGD ID: 126768875
RS ID: rs1556313479
ClinVar ID: CV1014965
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130068202  RP2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 46,696,579
GRCh38 X 46,837,144
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.44C>T
NG_009107.1:g.5233C>T
NC_000023.11:g.46837144C>T
NC_000023.10:g.46696579C>T
More... 		10/01/2023 missense variant uncertain significance none provided
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:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 15
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGCFFSKRRKADKELRPENEEERPKQYSWDQREKVDPKDYMFSGLKDETVGRLPGTVAGQQFLIQDCENCNIYIFDHSAT
VTIDDCTNCIIFLGPVKGSVFFRNCRDCKCTLACQQFRVRDCRKLEVFLCCATQPIIESSSNIKFGCFQWYYPELAFQFK
DAGLSIFNNTWSNIHDFTPVSGELNWSLLPEDAVVQDYVPIPTTEELKAVRVSTEANRSIVPISRGQRQKSSDESCLVVL
FAGDYTIANARKLIDEMVGKGFFLVQTKEVSMKAEDAQRVFREKAPDFLPLLNKGPVIALEFNGDGAVEVCQLIVNEIFN
GTKMFVSESKETASGDVDSFYNFADIQMGI*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001321622 CLINVAR
  RCV003888024 CLINVAR
dbSNP (RS) rs1556313479 CLINVAR
MedGen C0854723 CLINVAR
  C3661900 CLINVAR
NCBI Gene LOC130068202 CLINVAR
  RP2 CLINVAR
OMIM 300757 CLINVAR
SNOMED CT 314407005 CLINVAR