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ACTCCGAACGTTGGTGGTGTTGCCG[C/T]GTGCAGCTTCTTCACCATCTCGCTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604908 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PPP4R1 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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PPP4R1 - protein phosphatase 4 regulatory subunit 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001042388.2 | 2553 | Missense Mutation | ACG,GCG | T,A 814 | NP_001035847.1 | |
NM_005134.3 | 2553 | Missense Mutation | ACG,GCG | T,A 797 | NP_005125.1 | |
XM_011525775.2 | 2553 | Missense Mutation | ACG,GCG | T,A 866 | XP_011524077.1 | |
XM_011525776.1 | 2553 | Missense Mutation | ACG,GCG | T,A 849 | XP_011524078.1 | |
XM_011525779.2 | 2553 | Missense Mutation | ACG,GCG | T,A 755 | XP_011524081.1 | |
XM_017026105.1 | 2553 | Missense Mutation | ACG,GCG | T,A 813 | XP_016881594.1 | |
XM_017026106.1 | 2553 | Missense Mutation | ACG,GCG | T,A 725 | XP_016881595.1 | |
XM_017026107.1 | 2553 | Missense Mutation | ACG,GCG | T,A 725 | XP_016881596.1 |