Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AGAAATCAAACTCCCGCTGGTAAAA[C/G]TCCTTCGCTGGGCCGGACAAGGAGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 600286 | ||||||||||||||||||||
Literature Links: |
PI4KA 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 |
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 | 5208 | Missense Mutation | GAC,GAG | D,E 1729 | NP_477352.3 | |
XM_005261634.1 | 5208 | Missense Mutation | GAC,GAG | D,E 1726 | XP_005261691.1 | |
XM_005261635.1 | 5208 | Missense Mutation | GAC,GAG | D,E 1481 | XP_005261692.1 | |
XM_011530226.1 | 5208 | Intron | XP_011528528.1 | |||
XM_011530228.2 | 5208 | Intron | XP_011528530.1 | |||
XM_017028829.1 | 5208 | Missense Mutation | GAC,GAG | D,E 1735 | XP_016884318.1 | |
XM_017028830.1 | 5208 | Missense Mutation | GAC,GAG | D,E 1096 | XP_016884319.1 |