Product Details

SNP ID

rs190269020

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.2:200871444 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATAGTTATGTCCTTAATGTGTACA[G/T]CATTAAGAGGTCGGTATGTCTTCTC

Phenotype

MIM: 601951 MIM: 615811

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

CLK1 PubMed Links

Additional Information

For this assay, SNP(s) [rs7562391] 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

CLK1

Gene Name

CDC like kinase 1

There are no transcripts associated with this gene.

Gene

PPIL3

Gene Name

peptidylprolyl isomerase like 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032472.3	700	Missense Mutation	GAT,GCT	D150A	NP_115861.1
NM_130906.2	700	Missense Mutation	GAT,GCT	D146A	NP_570981.1
XM_005246651.3	700	Missense Mutation	GAT,GCT	D150A	XP_005246708.1
XM_005246652.4	700	Missense Mutation	GAT,GCT	D146A	XP_005246709.1
XM_011511358.2	700	Missense Mutation	GAT,GCT	D146A	XP_011509660.1
XM_017004352.1	700	Missense Mutation	GAT,GCT	D150A	XP_016859841.1
XM_017004353.1	700	Missense Mutation	GAT,GCT	D150A	XP_016859842.1
XM_017004354.1	700	Intron			XP_016859843.1
XM_017004355.1	700	Intron			XP_016859844.1
XM_017004356.1	700	Intron			XP_016859845.1
XM_017004357.1	700	Missense Mutation	GAT,GCT	D97A	XP_016859846.1
XM_017004358.1	700	Missense Mutation	GAT,GCT	D97A	XP_016859847.1
XM_017004359.1	700	Missense Mutation	GAT,GCT	D97A	XP_016859848.1
XM_017004360.1	700	Missense Mutation	GAT,GCT	D97A	XP_016859849.1

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