chr7:6027209 A>G
Основные
ГенPMS2
ТранскриптNM_000535.6
кДНКc.1187T>C
Белокp.M396T
Функцияmissense
Локализацияexon
hg19chr7:6027209 A>G
dbSNPrs786202704
Синонимы
ТранскрипткДНКБелок
NM_001322008.1c.869T>Cp.M290T
NM_001322010.1c.626T>Cp.M209T
NM_001322004.1c.782T>Cp.M261T
NM_001322006.1c.1031T>Cp.M344T
NM_001322007.1c.869T>Cp.M290T
NM_001322013.1c.614T>Cp.M205T
NM_001322003.1c.782T>Cp.M261T
NM_001322005.1c.782T>Cp.M261T
NM_001322009.1c.782T>Cp.M261T
NM_001322011.1c.254T>Cp.M85T
NM_001322012.1c.254T>Cp.M85T
NM_001322014.1c.1187T>Cp.M396T
NM_001322015.1c.878T>Cp.M293T
NR_136154.1n.1274T>C
Частота в gnomAD
GenomeExome
MAX––
AFR––
AMR––
ASJ––
EAS––
FIN––
NFE––
SAS––
ClinVar
IDФенотипЭффект