Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AGTCTGCAGATCCCCAGTGGGAGCA[A/G]TTAAATAACAAAAACCTGAGCATGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 600286 MIM: 142360 | ||||||||||||||||||||
Literature Links: |
PI4KA PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
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 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_058004.3 | 199 | Intron | NP_477352.3 | |||
XM_005261634.1 | 199 | Intron | XP_005261691.1 | |||
XM_005261635.1 | 199 | Intron | XP_005261692.1 | |||
XM_011530226.1 | 199 | Intron | XP_011528528.1 | |||
XM_011530228.2 | 199 | Intron | XP_011528530.1 | |||
XM_017028829.1 | 199 | Intron | XP_016884318.1 | |||
XM_017028830.1 | 199 | Intron | XP_016884319.1 |
SERPIND1 - serpin family D member 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000185.3 | 199 | Silent Mutation | CAA,CAG | Q,Q 44 | NP_000176.2 |