RGD:329386953 Rat Genome Database

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Variant: RGD:329386953 -  Homo sapiens

RGD ID: 329386953
ClinVar ID: CV2452721
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COPG1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 128,991,187
GRCh38 3 129,272,344
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_016128.4:c.2087G>A
NC_000003.12:g.129272344G>A
NC_000003.11:g.128991187G>A
NM_016128.3:c.2087G>A
More... 		02/17/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COPG1
Accession:NM_016128
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 696
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLKKFDKKDEESGGGSNPFQHLEKSAVLQEARVFNETPINPRKCAHILTKILYLINQGEHLGTTEATEAFFAMTKLFQSN
DPTLRRMCYLTIKEMSCIAEDVIIVTSSLTKDMTGKEDNYRGPAVRALCQITDSTMLQAIERYMKQAIVDKVPSVSSSAL
VSSLHLLKCSFDVVKRWVNEAQEAASSDNIMVQYHALGLLYHVRKNDRLAVNKMISKVTRHGLKSPFAYCMMIRVASKQL
EEEDGSRDSPLFDFIESCLRNKHEMVVYEAASAIVNLPGCSAKELAPAVSVLQLFCSSPKAALRYAAVRTLNKVAMKHPS
AVTACNLDLENLVTDSNRSIATLAITTLLKTGSESSIDRLMKQISSFMSEISDEFKVVVVQAISALCQKYPRKHAVLMNF
LFTMLREEGGFEYKRAIVDCIISIIEENSESKETGLSHLCEFIEDCEFTVLATRILHLLGQEGPKTTNPSKYIRFIYNRV
VLEHEEVRAGAVSALAKFGAQNEEMLPSILVLLKRCVMDDDNEVRDRATFYLNVLEQKQKALNAGYILNGLTVSIPGLER
ALQQYTLEPSEKPFDLKSVPLATAPMAEQRTESTPITAVKQPEKVAATRQEIFQEQLAAVPEFRGLGPLFKSSPEPVALT
ESETEYVIRCTKHTFTNHMVFQFDCTNTLNDQTLENVTVQMEPTEAYEVLCYVPAQSLPYNQPGTCYTLVALPKEDPTAV
ACTFSCMMKFTVKDCDPTTGETDDEGYEDEYVLEDLEVTVADHIQKVMKLNFEAAWDEVGDEFEKEETFTLSTIKTLEEA
VGNIVKFLGMHPCERSDKVPDNKNTHTLLLAGVFRGGHDILVRSRLLLLDTVTMQVTARSLEELPVDIILASVG*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003215014 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene COPG1 CLINVAR
OMIM 615525 CLINVAR