RGD:15201321 Rat Genome Database

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Variant: RGD:15201321 -  Homo sapiens

RGD ID: 15201321
RS ID: rs190443020
ClinVar ID: CV758499
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RP2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 46,713,559
GRCh38 X 46,854,124
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.751A>G
NG_009107.1:g.22213A>G
NC_000023.11:g.46854124A>G
NC_000023.10:g.46713559A>G
More... 		12/07/2021 missense variant benign|likely benign none provided; Retinitis pigmentosa 2, X linked
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RP2
Accession:NM_006915
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 251
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGCFFSKRRKADKESRPENEEERPKQYSWDQREKVDPKDYMFSGLKDETVGRLPGTVAGQQFLIQDCENCNIYIFDHSAT
VTIDDCTNCIIFLGPVKGSVFFRNCRDCKCTLACQQFRVRDCRKLEVFLCCATQPIIESSSNIKFGCFQWYYPELAFQFK
DAGLSIFNNTWSNIHDFTPVSGELNWSLLPEDAVVQDYVPIPTTEELKAVRVSTEANRSIVPISRGQRQKSSDESCLVVL
FAGDYTIANAGKLIDEMVGKGFFLVQTKEVSMKAEDAQRVFREKAPDFLPLLNKGPVIALEFNGDGAVEVCQLIVNEIFN
GTKMFVSESKETASGDVDSFYNFADIQMGI*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000913104 CLINVAR
  RCV002502749 CLINVAR
  RCV003970384 CLINVAR
dbSNP (RS) rs190443020 CLINVAR
MedGen C2681923 CLINVAR
  C3661900 CLINVAR
NCBI Gene RP2 CLINVAR
OMIM 300757 CLINVAR
  312600 CLINVAR