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Mutations on the Protein: Q04671 From Positions: 377 To 419

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6
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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 Disease: VAR_020630
p.MET394ILE
N/A
N/A
Albinism, oculocutaneous, 2 (OCA2)


Swiss-Prot Disease: VAR_006126
p.MET395LEU
N/A
N/A
Albinism, oculocutaneous, 2 (OCA2)


Swiss-Prot Disease: VAR_006125
p.PHE385ILE
N/A
N/A
Albinism, oculocutaneous, 2 (OCA2)


Swiss-Prot Polymorphism: VAR_020629
p.THR387MET
N/A
N/A
N/A


Swiss-Prot Disease: VAR_006127
p.THR404MET
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: 611409.0014
p.MET394ILE
N/A
N/A
ALBINISM, OCULOCUTANEOUS, TYPE II






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