chr2:48026357 A>C
Annotations
GeneMSH6
TranscriptNM_000179.2
cDNAc.1235A>C
Proteinp.K412T
Functionmissense
Localizationexon
hg19chr2:48026357 A>C
dbSNPrs587781508
Synonyms
TranscriptcDNAProtein
NM_001281492.1c.845A>Cp.K282T
NM_001281493.1c.329A>Cp.K110T
NM_001281494.1c.329A>Cp.K110T
Frequency in gnomAD
GenomeExome
MAX––
AFR––
AMR––
ASJ––
EAS––
FIN––
NFE––
SAS––
ClinVar
IDPhenotypeEffect