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Mutations on the Protein: Q04671 From Positions: 461 To 503

7
4
1
2










dbSNP Polymorphism: rs74653330
p.ALA481THR
N/A
N/A
N/A


Swiss-Prot Disease: VAR_007940
p.ALA481THR
N/A
N/A
Albinism, oculocutaneous, 2 (OCA2)


Swiss-Prot Disease: VAR_043700
p.ASN476ASP
N/A
N/A
Albinism, oculocutaneous, 2 (OCA2)


Swiss-Prot Disease: VAR_006135
p.ASN489ASP
N/A
N/A
Albinism, oculocutaneous, 2 (OCA2)


Swiss-Prot Disease: VAR_006134
p.ILE473SER
N/A
N/A
Albinism, oculocutaneous, 2 (OCA2)


OMIM Disease: 611409.0003
p.ALA481THR
N/A
N/A
ALBINISM, OCULOCUTANEOUS, TYPE II


OMIM Disease: 611409.0010
p.ASN489ASP
N/A
N/A
ALBINISM, OCULOCUTANEOUS, TYPE II






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