Product Details

SNP ID

rs147243395

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:151294138 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGTCGCCATCCAGGCCGCCCATCA[C/T]CTGGAAAGGGAAGAGAGCGTTGTGT

Phenotype

MIM: 602758 MIM: 610568

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PI4KB PubMed Links

Gene Details

Gene

PI4KB

Gene Name

phosphatidylinositol 4-kinase beta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001198774.1	2577	Missense Mutation	ATG,GTG	M702V	NP_001185703.1
XM_005245264.3	2577	Missense Mutation	ATG,GTG	M714V	XP_005245321.1
XM_011509634.1	2577	Missense Mutation	ATG,GTG	M729V	XP_011507936.1
XM_011509635.1	2577	Missense Mutation	ATG,GTG	M717V	XP_011507937.1
XM_011509636.2	2577	Missense Mutation	ATG,GTG	M717V	XP_011507938.1
XM_011509637.2	2577	Missense Mutation	ATG,GTG	M717V	XP_011507939.1
XM_011509638.1	2577	Missense Mutation	ATG,GTG	M714V	XP_011507940.1
XM_017001486.1	2577	Missense Mutation	ATG,GTG	M702V	XP_016856975.1
XM_017001487.1	2577	Missense Mutation	ATG,GTG	M702V	XP_016856976.1
XM_017001488.1	2577	Missense Mutation	ATG,GTG	M702V	XP_016856977.1
XM_017001489.1	2577	Missense Mutation	ATG,GTG	M717V	XP_016856978.1
XM_017001490.1	2577	Missense Mutation	ATG,GTG	M717V	XP_016856979.1
XM_017001491.1	2577	Missense Mutation	ATG,GTG	M717V	XP_016856980.1
XM_017001492.1	2577	Missense Mutation	ATG,GTG	M702V	XP_016856981.1

Gene

ZNF687

Gene Name

zinc finger protein 687

There are no transcripts associated with this gene.

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