RGD:127311230 Rat Genome Database

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Variant: RGD:127311230 -  Homo sapiens

RGD ID: 127311230
RS ID: rs143096101
ClinVar ID: CV1116638
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRPH2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 42,689,566
GRCh38 6 42,721,828
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000322.5:c.507C>T
NG_009176.2:g.5793C>T
NC_000006.12:g.42721828G>A
NC_000006.11:g.42689566G>A
More... 		10/01/2023 synonymous variant likely benign PRPH2-related condition; PRPH2-Related Disorders
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 N (synonymous)
Amino Acid Position: 169
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALLKVKFDQKKRVKLAQGLWLMNWFSVLAGIIIFSLGLFLKIELRKRSDVMNNSESHFVPNSLIGMGVLSCVFNSLAGK
ICYDALDPAKYARWKPWLKPYLAICVLFNIILFLVALCCFLLRGSLENTLGQGLKNGMKYYRDTDTPGRCFMKKTIDMLQ
IEFKCCGNNGFRDWFEIQWISNRYLDFSSKEVKDRIKSNVDGRYLVDGVPFSCCNPSSPRPCIQYQITNNSAHYSYDHQT
EELNLWVRGCRAALLSYYSSLMNSMGVVTLLIWLFEVTITIGLRYLQTSLDGVSNPEESESESQGWLLERSVPETWKAFL
ESVKKLGKGNQVEAEGADAGQAPEAG*

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001456822 CLINVAR
  RCV003888171 CLINVAR
dbSNP (RS) rs143096101 CLINVAR
MedGen C0854723 CLINVAR
  CN239395 CLINVAR
NCBI Gene PRPH2 CLINVAR
OMIM 179605 CLINVAR
SNOMED CT 314407005 CLINVAR