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TCTGGAAGGCTGGAGGGCAAGTCCT[A/G]CCTCCTCCCTTCTGCCTGGGGGTCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
PPM1F 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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PPM1F - protein phosphatase, Mg2+/Mn2+ dependent 1F | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_014634.3 | 1456 | Nonsense Mutation | CAG,TAG | Q,* 437 | NP_055449.1 | |
XM_011530556.1 | 1456 | Nonsense Mutation | CAG,TAG | Q,* 269 | XP_011528858.1 | |
XM_017029108.1 | 1456 | Intron | XP_016884597.1 |