chr2:48027413 C>A
Annotations
GeneMSH6
TranscriptNM_000179.2
cDNAc.2291C>A
Proteinp.T764N
Functionmissense
Localizationexon
hg19chr2:48027413 C>A
dbSNPrs561198849
Synonyms
TranscriptcDNAProtein
NM_001281492.1c.1901C>Ap.T634N
NM_001281493.1c.1385C>Ap.T462N
NM_001281494.1c.1385C>Ap.T462N
Frequency in gnomAD
GenomeExome
MAX0.00010.00009746
AFR0.00010
AMR00
ASJ00
EAS00
FIN00
NFE00.00000898
SAS–0.00009746
ClinVar
IDPhenotypeEffect
HGMD
IDPhenotypeEffect
CM057195Colorectal cancer, non-polyposisDM