Product Details

SNP ID

rs201463227

Assay Type

Functionally Tested

NCBI dbSNP Submissions

2

Location

Chr.1:151286568 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATTGTCAAGAACACTGTGTGTCCC[A/G]AGCAGTCTGAGGCCCTGGCTGGAGG

Phenotype

MIM: 602758 MIM: 610568

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

LOC100507670 PubMed Links

Additional Information

For this assay, SNP(s) [rs2298265] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	579	Missense Mutation	AAG,GAG	K93E	NP_001291692.1
NM_001304764.1	579	Missense Mutation	AAG,GAG	K93E	NP_001291693.1
NM_020832.2	579	Missense Mutation	AAG,GAG	K93E	NP_065883.1
XM_005245366.3	579	Missense Mutation	AAG,GAG	K102E	XP_005245423.1
XM_011509811.2	579	Missense Mutation	AAG,GAG	K93E	XP_011508113.1
XM_011509812.2	579	Missense Mutation	AAG,GAG	K93E	XP_011508114.1
XM_011509813.2	579	Missense Mutation	AAG,GAG	K93E	XP_011508115.1

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