Product Details

SNP ID

rs143427475

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:151286764 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAGAAAAAGGCATGGAAGGCAAAA[C/G]TCCCTTGGACCTGTTTGCTCATTTT

Phenotype

MIM: 602758 MIM: 610568

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

LOC100507670 PubMed Links

Gene Details

Gene

LOC100507670

Gene Name

uncharacterized LOC100507670

There are no transcripts associated with this gene.

Gene

PI4KB

Gene Name

phosphatidylinositol 4-kinase beta

There are no transcripts associated with this gene.

Gene

ZNF687

Gene Name

zinc finger protein 687

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001304763.1	775	Missense Mutation	ACT,AGT	T158S	NP_001291692.1
NM_001304764.1	775	Missense Mutation	ACT,AGT	T158S	NP_001291693.1
NM_020832.2	775	Missense Mutation	ACT,AGT	T158S	NP_065883.1
XM_005245366.3	775	Missense Mutation	ACT,AGT	T167S	XP_005245423.1
XM_011509811.2	775	Missense Mutation	ACT,AGT	T158S	XP_011508113.1
XM_011509812.2	775	Missense Mutation	ACT,AGT	T158S	XP_011508114.1
XM_011509813.2	775	Missense Mutation	ACT,AGT	T158S	XP_011508115.1

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