Gene Symbol: NOP56
OMIM: 614154Chromosome location: 20p13
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Phenotype: | Multiple endocrine neoplasia IIA |
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| Dna Change: | (GGCCTG)n EXPANSION |
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| Protein Change: | |
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| Mutation Type: | Sequence repeat |
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| Mutation Effect: | |
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| Location: | intron 1 |
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| Transcript: | NM_006392.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Spain | NA | Galicia (Costa da Morte) | NA | 1275 years ago | García-Murias M et al., 2012García-Murias M, Quintáns B, Arias M, Seixas AI, Cacheiro P, Tarrío R, Pardo J, Millán MJ, Arias-Rivas S, Blanco-Arias P, Dapena D, Moreira R, Rodríguez-Trelles F, Sequeiros J, Carracedo A, Silveira I, Sobrido MJ, . 'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization.. Brain. 2012; 135(0):1423-35 |
References
García-Murias M, Quintáns B, Arias M, Seixas AI, Cacheiro P, Tarrío R, Pardo J, Millán MJ, Arias-Rivas S, Blanco-Arias P, Dapena D, Moreira R, Rodríguez-Trelles F, Sequeiros J, Carracedo A, Silveira I, Sobrido MJ, 'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization.Brain. 2012; 135(0):1423-35