chr2:47606093 A>C
Annotations
GeneEPCAM
TranscriptNM_002354.2
cDNAc.557A>C
Proteinp.Y186S
Functionmissense
Localizationexon
hg19chr2:47606093 A>C
dbSNPrs757739862
Frequency in gnomAD
GenomeExome
MAX0.000066620.00001795
AFR00
AMR00
ASJ00
EAS00
FIN00
NFE0.000066620.00001795
SAS–0