Product Details

SNP ID

rs313549

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:25234395 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGACGTGGGGGTCTCCCGGAGTTCG[C/T]CCGCCGAGCTGGACCGGAGCCGCCC

Phenotype

MIM: 612101

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PI4K2B PubMed Links

Gene Details

Gene

PI4K2B

Gene Name

phosphatidylinositol 4-kinase type 2 beta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018323.3	363	Missense Mutation	CCC,TCC	P78S	NP_060793.2
XM_005248174.1	363	Missense Mutation	CCC,TCC	P78S	XP_005248231.1
XM_005248175.4	363	Intron			XP_005248232.1

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