RGD:8645188 Rat Genome Database

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Variant: RGD:8645188 -  Homo sapiens

RGD ID: 8645188
RS ID: rs61755815
ClinVar ID: CV104594
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRPH2  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 42,672,201
GRCh38 6 42,704,463
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000006.12:g.42704463T>G
NC_000006.11:g.42672201T>G
NP_000313.2:p.Asn244His
NM_000322.5:c.730A>C
More... 		10/01/2023 missense|missense variant pathogenic|not provided 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:PRPH2
Accession:NM_000322
Location:EXON
Amino Acid Prediction: N to H (nonsynonymous)
Amino Acid Position: 244
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALLKVKFDQKKRVKLAQGLWLMNWFSVLAGIIIFSLGLFLKIELRKRSDVMNNSESHFVPNSLIGMGVLSCVFNSLAGK
ICYDALDPAKYARWKPWLKPYLAICVLFNIILFLVALCCFLLRGSLENTLGQGLKNGMKYYRDTDTPGRCFMKKTIDMLQ
IEFKCCGNNGFRDWFEIQWISNRYLDFSSKEVKDRIKSNVDGRYLVDGVPFSCCNPSSPRPCIQYQITNNSAHYSYDHQT
EELHLWVRGCRAALLSYYSSLMNSMGVVTLLIWLFEVTITIGLRYLQTSLDGVSNPEESESESQGWLLERSVPETWKAFL
ESVKKLGKGNQVEAEGADAGQAPEAG*

Gene Symbol:PRPH2
Accession:XR_007059288
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:8540854  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000085016 CLINVAR
  RCV003888460 CLINVAR
dbSNP (RS) rs61755815 CLINVAR
MedGen C0854723 CLINVAR
  C3661900 CLINVAR
NCBI Gene PRPH2 CLINVAR
OMIM 179605 CLINVAR
SNOMED CT 314407005 CLINVAR