RGD:21067306 Rat Genome Database

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Variant: RGD:21067306 -  Homo sapiens

RGD ID: 21067306
ClinVar ID: CV795246
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EPCAM  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 47,600,693
GRCh38 2 47,373,554
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.12:g.47373554T>C
NC_000002.11:g.47600693T>C
NP_002345.2:p.Thr56=
NG_012352.2:g.33392T>C
More... 		09/01/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:EPCAM
Accession:NM_002354
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 56
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPPQVLAFGLLLAAATATFAAAQEECVCENYKLAVNCFVNNNRQCQCTSVGAQNTVICSKLAAKCLVMKAEMNGSKLGR
RAKPEGALQNNDGLYDPDCDESGLFKAKQCNGTSMCWCVNTAGVRRTDKDTEITCSERVRTYWIIIELKHKAREKPYDSK
SLRTALQKEITTRYQLDPKFITSILYENNVITIDLVQNSSQKTQNDVDIADVAYYFEKDVKGESLFHSKKMDLTVNGEQL
DLDPGQTLIYYVDEKAPEFSMQGLKAGVIAVIVVVVIAVVAGIVVLVISRKKRMAKYEKAEIKEMGEMHRELNA*
Variant Samples