RGD:155982625 Rat Genome Database

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Variant: RGD:155982625 -  Homo sapiens

RGD ID: 155982625
ClinVar ID: CV2371131
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EXOC3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 462,388
GRCh38 5 462,273
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_007277.5:c.1619G>A
NC_000005.10:g.462273G>A
NC_000005.9:g.462388G>A
NM_007277.4:c.1619G>A
More... 		06/09/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EXOC3
Accession:NM_007277
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 540
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKETDREAVATAVQRVAGMLQRPDQLDKVEQYRRREARKKASVEARLKAAIQSQLDGVRTGLSQLHNALNDVKDIQQSLA
DVSKDWRQSINTIESLKDVKDAVVQHSQLAAAVENLKNIFSVPEIVRETQDLIEQGALLQAHRKLMDLECSRDGLMYEQY
RMDSGNTRDMTLIHGYFGSTQGLSDELAKQLWMVLQRSLVTVRRDPTLLVSVVRIIEREEKIDRRILDRKKQTGFVPPGR
PKNWKEKMFTILERTVTTRIEGTQADTRESDKMWLVRHLEIIRKYVLDDLIVAKNLMVQCFPPHYEIFKNLLNMYHQALS
TRMQDLASEDLEANEIVSLLTWVLNTYTSTEMMRNVELAPEVDVGTLEPLLSPHVVSELLDTYMSTLTSNIIAWLRKALE
TDKKDWVKETEPEADQDGYYQTTLPAIVFQMFEQNLQVAAQISEDLKTKVLVLCLQQMNSFLSRYKDEAQLYKEEHLRNR
QHPHCYVQYMIAIINNCQTFKESIVSLKRKYLKNEVEEGVSPSQPSMDGILDAIAKEGCNGLLEEVFLDLEQHLNELMTK
KWLLGSNAVDIICVTVEDYFNDFAKIKKPYKKRMTAEAHRRVVVEYLRAVMQKRISFRSPEERKEGAEKMVREAEQLRFL
FRKLASGFGEDVDGYCDTIVAVAEVIKLTDPSLLYLEVSTLVSKYPDIRDDHIGALLAVRGDASRDMKQTIMETLEQGPA
QASPSYVPLFKDIVVPSLNVAKLLK*

Gene Symbol:EXOC3
Accession:XM_047416683
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002688512 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene EXOC3 CLINVAR
OMIM 608186 CLINVAR