RGD:21070139 Rat Genome Database

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Variant: RGD:21070139 -  Homo sapiens

RGD ID: 21070139
RS ID: rs1588184967
ClinVar ID: CV796241
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTGES  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 132,502,045
GRCh38 9 129,739,766
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000009.11:g.132502045G>A
NC_000009.12:g.129739766G>A
NM_004878.5:c.304C>T
NP_004869.1:p.His102Tyr
 05/01/2019 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:PTGES
Accession:NM_004878
Location:EXON
Amino Acid Prediction: H to Y (nonsynonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPAHSLVMSSPALPAFLLCSTLLVIKMYVVAIITGQVRLRKKAFANPEDALRHGGPQYCRSDPDVERCLRAHRNDMETIY
PFLFLGFVYSFLGPNPFVAWMYFLVFLVGRVAHTVAYLGKLRAPIRSVTYTLAQLPCASMALQILWEAARHL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000999241 CLINVAR
dbSNP (RS) rs1588184967 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PTGES CLINVAR
OMIM 605172 CLINVAR