RGD:10407499 Rat Genome Database

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Variant: RGD:10407499 -  Homo sapiens

RGD ID: 10407499
RS ID: rs863224709
ClinVar ID: CV212150
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EPCAM  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 47,596,672
GRCh38 2 47,369,533
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_215t1:c.28G>A
LRG_215:g.29371G>A
NG_012352.2:g.29371G>A
NC_000002.12:g.47369533G>A
More... 		06/14/2015 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View
Lynch syndrome  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:EPCAM
Accession:NM_002354
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 10
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPPQVLAFRLLLAAATATFAAAQEECVCENYKLAVNCFVNNNRQCQCTSVGAQNTVICSKLAAKCLVMKAEMNGSKLGR
RAKPEGALQNNDGLYDPDCDESGLFKAKQCNGTSMCWCVNTAGVRRTDKDTEITCSERVRTYWIIIELKHKAREKPYDSK
SLRTALQKEITTRYQLDPKFITSILYENNVITIDLVQNSSQKTQNDVDIADVAYYFEKDVKGESLFHSKKMDLTVNGEQL
DLDPGQTLIYYVDEKAPEFSMQGLKAGVIAVIVVVVIAVVAGIVVLVISRKKRMAKYEKAEIKEMGEMHRELNA*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001327347 CLINVAR
dbSNP (RS) rs863224709 CLINVAR
MedGen C0009405 CLINVAR
NCBI Gene EPCAM CLINVAR
OMIM 185535 CLINVAR