chr7:6026766 C>T
Основные
ГенPMS2
ТранскриптNM_000535.6
кДНКc.1630G>A
Белокp.D544N
Функцияmissense
Локализацияexon
hg19chr7:6026766 C>T
dbSNPrs876660139
Синонимы
ТранскрипткДНКБелок
NM_001322008.1c.1312G>Ap.D438N
NM_001322010.1c.1069G>Ap.D357N
NM_001322004.1c.1225G>Ap.D409N
NM_001322006.1c.1474G>Ap.D492N
NM_001322007.1c.1312G>Ap.D438N
NM_001322013.1c.1057G>Ap.D353N
NM_001322003.1c.1225G>Ap.D409N
NM_001322005.1c.1225G>Ap.D409N
NM_001322009.1c.1225G>Ap.D409N
NM_001322011.1c.697G>Ap.D233N
NM_001322012.1c.697G>Ap.D233N
NM_001322014.1c.1630G>Ap.D544N
NM_001322015.1c.1321G>Ap.D441N
NR_136154.1n.1717G>A
Частота в gnomAD
GenomeExome
MAX––
AFR––
AMR––
ASJ––
EAS––
FIN––
NFE––
SAS––
ClinVar
IDФенотипЭффект