RGD:10767012 Rat Genome Database

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Variant: RGD:10767012 -  Homo sapiens

RGD ID: 10767012
RS ID: rs371217745
ClinVar ID: CV221189
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EPCAM  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 47,601,122
GRCh38 2 47,373,983
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_215p1:p.Asn120=
NP_002345.2:p.Asn120=
LRG_215t1:c.360C>T
LRG_215:g.33821C>T
More... 		08/08/2017 synonymous variant likely benign Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EPCAM
Accession:NM_002354
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 120
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPPQVLAFGLLLAAATATFAAAQEECVCENYKLAVNCFVNNNRQCQCTSVGAQNTVICSKLAAKCLVMKAEMNGSKLGR
RAKPEGALQNNDGLYDPDCDESGLFKAKQCNGTSMCWCVNTAGVRRTDKDTEITCSERVRTYWIIIELKHKAREKPYDSK
SLRTALQKEITTRYQLDPKFITSILYENNVITIDLVQNSSQKTQNDVDIADVAYYFEKDVKGESLFHSKKMDLTVNGEQL
DLDPGQTLIYYVDEKAPEFSMQGLKAGVIAVIVVVVIAVVAGIVVLVISRKKRMAKYEKAEIKEMGEMHRELNA*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000679439 CLINVAR
  RCV001404060 CLINVAR
  RCV002453743 CLINVAR
dbSNP (RS) rs371217745 CLINVAR
MedGen C0009405 CLINVAR
  C0027672 CLINVAR
  C3661900 CLINVAR
NCBI Gene EPCAM CLINVAR
OMIM 185535 CLINVAR
SNOMED CT 699346009 CLINVAR