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ATGTGTATTTTACCCTTGACAGACA[C/T]CGGAAGAAATAGAAAGATTGACAGT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 616790 | ||||||||||||||||||||
Literature Links: |
PPP4R4 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
PPP4R4 - protein phosphatase 4 regulatory subunit 4 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_020958.2 | 248 | Missense Mutation | CCG,TCG | P,S 41 | NP_066009.2 | |
NM_058237.1 | 248 | Missense Mutation | CCG,TCG | P,S 41 | NP_478144.1 | |
XM_005267930.2 | 248 | UTR 5 | XP_005267987.1 | |||
XM_011537038.2 | 248 | UTR 5 | XP_011535340.1 | |||
XM_011537039.2 | 248 | Intron | XP_011535341.1 | |||
XM_011537040.2 | 248 | Intron | XP_011535342.1 | |||
XM_017021528.1 | 248 | Intron | XP_016877017.1 | |||
XM_017021529.1 | 248 | UTR 5 | XP_016877018.1 | |||
XM_017021530.1 | 248 | UTR 5 | XP_016877019.1 |