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GGACCAGGAAGCTGTCATCAGCATG[A/C]TGTAACTGCAATCAGAACCAAATGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611065 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PPM1K 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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PPM1K - protein phosphatase, Mg2+/Mn2+ dependent 1K | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_152542.4 | 582 | Missense Mutation | CAG,CAT | Q,H 286 | NP_689755.3 | |
XM_005262775.3 | 582 | Intron | XP_005262832.1 | |||
XM_006714111.3 | 582 | Missense Mutation | CAG,CAT | Q,H 286 | XP_006714174.1 | |
XM_017007803.1 | 582 | Missense Mutation | CAG,CAT | Q,H 286 | XP_016863292.1 | |
XM_017007804.1 | 582 | Missense Mutation | CAG,CAT | Q,H 177 | XP_016863293.1 | |
XM_017007805.1 | 582 | Missense Mutation | CAG,CAT | Q,H 177 | XP_016863294.1 | |
XM_017007806.1 | 582 | Missense Mutation | CAG,CAT | Q,H 177 | XP_016863295.1 | |
XM_017007807.1 | 582 | Missense Mutation | CAG,CAT | Q,H 158 | XP_016863296.1 |