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GCTCGCCACCCCTCGAGCTGCTGGC[A/G]GCCGGTGGCGTGGTGCCAGGTGTGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605377 MIM: 609857 MIM: 607548 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DMPK 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 - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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DMPK - dystrophia myotonica protein kinase | ||||||
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There are no transcripts associated with this gene. |
DMWD - dystrophia myotonica, WD repeat containing | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004943.1 | 1462 | Silent Mutation | GCC,GCT | A,A 472 | NP_004934.1 |
RSPH6A - radial spoke head 6 homolog A | ||||||
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There are no transcripts associated with this gene. |