Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607566 | ||||||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
EPM2A PubMed Links | ||||||||||||||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | ||||||
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Global
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Caucasian
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CEPH (CEU) - Not Available | ||||||
EAS
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African American
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YRI (Yoruba) - Not Available | ||||||
SAS
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Japanese
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CHB (Han Chinese) - Not Available | ||||||
AFR
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Chinese
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JPT (Japanese) - Not Available | ||||||
EUR
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AMR
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EPM2A - epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001018041.1 | Intron | NP_001018051.1 | ||||
NM_005670.3 | Intron | NP_005661.1 | ||||
XM_006715564.3 | Intron | XP_006715627.1 | ||||
XM_011536113.2 | Intron | XP_011534415.1 | ||||
XM_011536116.1 | Intron | XP_011534418.1 | ||||
XM_017011300.1 | Intron | XP_016866789.1 | ||||
XM_017011301.1 | Intron | XP_016866790.1 | ||||
XM_017011302.1 | Intron | XP_016866791.1 |