RGD:156307523 Rat Genome Database

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Variant: RGD:156307523 -  Homo sapiens

RGD ID: 156307523
ClinVar ID: CV2332017
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTGDR2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 60,620,384
GRCh38 11 60,852,911
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004778.3:c.812G>A
NG_016170.1:g.8061G>A
NC_000011.10:g.60852911C>T
NC_000011.9:g.60620384C>T
More... 		12/14/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PTGDR2
Accession:NM_004778
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 271
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSANATLKPLCPILEQMSRLQSHSNTSIRYIDHAAVLLHGLASLLGLVENGVILFVVGCRMRQTVVTTWVLHLALSDLLA
SASLPFFTYFLAVGHSWELGTTFCKLHSSIFFLNMFASGFLLSAISLDRCLQVVRPVWAQNHRTVAAAHKVCLVLWALAV
LNTVPYFVFRDTISRLDGRIMCYYNVLLLNPGPDRDATCNSRQVALAVSKFLLAFLVPLAIIASSHAAVSLRLQHRGRRR
PGRFVRLVAAVVAAFALCWGPYHVFSLLEAQAHANPGLRPLVWRGLPFVTSLAFFNSVANPVLYVLTCPDMLRKLRRSLR
TVLESVLVDDSELGGAGSSRRRRTSSTARSASPLALCSRPEEPRGPARLLGWLLGSCAASPQTGPLNRALSSTSS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004189073 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PTGDR2 CLINVAR
OMIM 604837 CLINVAR