Genomic Map

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Assay Details

Species:	Human
dbSNP Submissions:	NA
Phenotype:	MIM: 600286
Literature Links:	PI4KA PubMed Links
Allele Nomenclature:
Minor Allele Frequency:

1000Genome

Applied Biosystems^®

HapMap

Global

G (0.00)

(1.00)

Caucasian - Not Available

CEPH (CEU) - Not Available

EAS

G (0.00)

(1.00)

African American - Not Available

YRI (Yoruba) - Not Available

SAS

G (0.00)

(1.00)

Chinese - Not Available

CHB (Han Chinese) - Not Available

AFR

G (0.00)

(1.00)

Japanese - Not Available

JPT (Japanese) - Not Available

EUR

G (0.00)

(1.00)

AMR

G (0.00)

(1.00)

PI4KA - phosphatidylinositol 4-kinase alpha
Transcript Accession	SNP Location	SNP Type	Observed Codons	Observed Amino Acid	Protein ID
NM_058004.3	5158	Missense Mutation	CAT,GAT	H,D 1713	NP_477352.3
XM_005261634.1	5158	Missense Mutation	CAT,GAT	H,D 1710	XP_005261691.1
XM_005261635.1	5158	Missense Mutation	CAT,GAT	H,D 1465	XP_005261692.1
XM_011530226.1	5158	Intron			XP_011528528.1
XM_011530228.2	5158	Intron			XP_011528530.1
XM_017028829.1	5158	Missense Mutation	CAT,GAT	H,D 1719	XP_016884318.1
XM_017028830.1	5158	Missense Mutation	CAT,GAT	H,D 1080	XP_016884319.1

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More Information

Additional Information:

For this assay, SNP(s) [rs1807692] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.