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CCCGGCCCCGCCGCCGCAGCCCCCC[A/G]CCCCTGCCCTGCCGCACCCCCCGGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
6 submissions
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Phenotype: |
MIM: 602006 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MAPKAPK2 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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MAPKAPK2 - mitogen-activated protein kinase-activated protein kinase 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004759.4 | 283 | Missense Mutation | ACC,GCC | T,A 25 | NP_004750.1 | |
NM_032960.3 | 283 | Missense Mutation | ACC,GCC | T,A 25 | NP_116584.2 | |
XM_005273353.3 | 283 | Missense Mutation | ACC,GCC | T,A 25 | XP_005273410.1 | |
XM_017002810.1 | 283 | Intron | XP_016858299.1 |