chr2:48027795 C>G
Annotations
GeneMSH6
TranscriptNM_000179.2
cDNAc.2673C>G
Proteinp.I891M
Functionmissense
Localizationexon
hg19chr2:48027795 C>G
dbSNPrs146006741
Synonyms
TranscriptcDNAProtein
NM_001281492.1c.2283C>Gp.I761M
NM_001281493.1c.1767C>Gp.I589M
NM_001281494.1c.1767C>Gp.I589M
Frequency in gnomAD
GenomeExome
MAX–0.00000901
AFR–0
AMR–0
ASJ–0
EAS–0
FIN–0
NFE–0.00000901
SAS–0