chr2:47602397 C>G
Annotations
GeneEPCAM
TranscriptNM_002354.2
cDNAc.450C>G
Proteinp.H150Q
Functionmissense
Localizationexon
hg19chr2:47602397 C>G
dbSNPrs864622724
Frequency in gnomAD
GenomeExome
MAX–0.00001792
AFR–0
AMR–0
ASJ–0
EAS–0
FIN–0
NFE–0.00001792
SAS–0
ClinVar
IDPhenotypeEffect