Properties

MORBIDMAP :NAME MM: Niemann-pick disease, type C2 :MORBID_ID 607625 :NUM 3 :SYM (NPC2 HE1) :LOCUS 14q24.3 :OMIM_ID 601015 :SNP NIEMANN-PICK DISEASE, TYPE C2; NPC2, GLU20TER; rs80358260 NIEMANN-PICK DISEASE, TYPE C2; NPC2, IVS2, G-A, +5; rs80358268 NIEMANN-PICK DISEASE, TYPE C2; NPC2, GLU118TER; rs80358266 NIEMANN-PICK DISEASE, TYPE C2; NPC2, SER67PRO; rs11694 NIEMANN-PICK DISEASE, TYPE C2; NPC2, VAL39MET; rs80358261 NIEMANN-PICK DISEASE, TYPE C2; NPC2, GLN146TER; rs104894457 NIEMANN-PICK DISEASE, TYPE C2; NPC2, PRO120SER; rs104894458 :AAUSHI NIEMANN_PICK_DISEASE :AAUSHIGENE HE1_PROTEIN