RGD:156087870 Rat Genome Database

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Variant: RGD:156087870 -  Homo sapiens

RGD ID: 156087870
ClinVar ID: CV2337053
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTGER1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 14,585,077
GRCh38 19 14,474,265
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000955.3:c.56C>T
NC_000019.10:g.14474265G>A
NC_000019.9:g.14585077G>A
NM_000955.2:c.56C>T
More... 		08/30/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PTGER1
Accession:NM_000955
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 19
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSPCGPLNLSLAGEATTCVAPWVPNTSAVPPSGASPALPIFSMTLGAVSNLLALALLAQAAGRLRRRRSAATFLLFVASL
LATDLAGHVIPGALVLRLYTAGRAPAGGACHFLGGCMVFFGLCPLLLGCGMAVERCVGVTRPLLHAARVSVARARLALAA
VAAVALAVALLPLARVGRYELQYPGTWCFIGLGPPGGWRQALLAGLFASLGLVALLAALVCNTLSGLALLRARWRRRSRR
PPPASGPDSRRRWGAHGPRSASASSASSIASASTFFGGSRSSGSARRARAHDVEMVGQLVGIMVVSCICWSPMLVLVALA
VGGWSSTSLQRPLFLAVRLASWNQILDPWVYILLRQAVLRQLLRLLPPRAGAKGGPAGLGLTPSAWEASSLRSSRHSGLS
HF*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004192818 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PTGER1 CLINVAR
OMIM 176802 CLINVAR