Product Details

SNP ID

rs5905

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.22:20779331 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

CGCCAAAATGAAACACTCATTAAAC[A/G]CACTTCTCATTTTCCTCATCATAAC

Phenotype

MIM: 600286 MIM: 142360

Polymorphism

A/G, 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	86	Intron			NP_477352.3
XM_005261634.1	86	Intron			XP_005261691.1
XM_005261635.1	86	Intron			XP_005261692.1
XM_011530226.1	86	Intron			XP_011528528.1
XM_011530228.2	86	Intron			XP_011528530.1
XM_017028829.1	86	Intron			XP_016884318.1
XM_017028830.1	86	Intron			XP_016884319.1

Gene

SERPIND1

Gene Name

serpin family D member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000185.3	86	Missense Mutation	ACA,GCA	T7A	NP_000176.2

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