Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GACGGGGAGGACGAAGGCGCCCGGC[C/T]GGCCCCTTGGAGGGACGCCCGAGAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600286 MIM: 604202 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PI4KA 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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PI4KA - phosphatidylinositol 4-kinase alpha | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_058004.3 | 172 | Intron | NP_477352.3 | |||
XM_005261634.1 | 172 | Intron | XP_005261691.1 | |||
XM_005261635.1 | 172 | Intron | XP_005261692.1 | |||
XM_011530226.1 | 172 | Intron | XP_011528528.1 | |||
XM_011530228.2 | 172 | Intron | XP_011528530.1 | |||
XM_017028829.1 | 172 | Intron | XP_016884318.1 | |||
XM_017028830.1 | 172 | Intron | XP_016884319.1 |
SNAP29 - synaptosome associated protein 29 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004782.3 | 172 | Missense Mutation | CCG,CTG | P,L 22 | NP_004773.1 |