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TGACTGGCTGGTGAGGTTAGTCTTC[A/G]TTCCACTGGACAGGGAAAGCTTGAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610351 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PPP4R3A 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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PPP4R3A - protein phosphatase 4 regulatory subunit 3A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001284280.1 | 2338 | Missense Mutation | ACG,ATG | T,M 739 | NP_001271209.1 | |
NM_001284281.1 | 2338 | Missense Mutation | ACG,ATG | T,M 513 | NP_001271210.1 | |
XM_005267842.2 | 2338 | Missense Mutation | ACG,ATG | T,M 752 | XP_005267899.1 |