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Mutations on the Protein: Q04671 From Positions: 419 To 461

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5
1
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dbSNP Polymorphism: rs1800407
p.ARG419GLN
N/A
N/A
N/A


Swiss-Prot Disease: VAR_006129
p.ARG419TRP
N/A
N/A
Albinism, oculocutaneous, 2 (OCA2)


Swiss-Prot Polymorphism: VAR_006131
p.LEU440HIS
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_007939
p.LEU440PHE
N/A
N/A
N/A


Swiss-Prot Disease: VAR_006133
p.MET446VAL
N/A
N/A
Albinism, oculocutaneous, 2 (OCA2)


Swiss-Prot Disease: VAR_006132
p.VAL443ILE
N/A
N/A
Albinism, oculocutaneous, 2 (OCA2)


OMIM Disease: 611409.0012
p.ARG419GLN
N/A
N/A
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES


OMIM Disease: 611409.0004
p.VAL443ILE
N/A
N/A
ALBINISM, OCULOCUTANEOUS, TYPE II






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