Product Details

SNP ID
rs750352017
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:20708085 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCATTCTGATAGTACTGGATCATGT[T/C]GTAGGTCCGGCTCCTGAAAGGCCAA
Phenotype
MIM: 600286
Polymorphism
T/C, Transition substitution
Allele Nomenclature
Literature Links
PI4KA PubMed Links

Gene Details

Gene
PI4KA
Gene Name
phosphatidylinositol 4-kinase alpha
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_058004.3 6292 Missense Mutation AAC,GAC N2091D NP_477352.3
XM_005261634.1 6292 Missense Mutation AAC,GAC N2088D XP_005261691.1
XM_005261635.1 6292 Missense Mutation AAC,GAC N1843D XP_005261692.1
XM_011530226.1 6292 Intron XP_011528528.1
XM_011530228.2 6292 Intron XP_011528530.1
XM_017028829.1 6292 Missense Mutation AAC,GAC N2097D XP_016884318.1
XM_017028830.1 6292 Missense Mutation AAC,GAC N1458D XP_016884319.1
Gene
TMEM191A
Gene Name
transmembrane protein 191A (pseudogene)
There are no transcripts associated with this gene.

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