Product Details

SNP ID

rs201896678

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:200871456 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTAATGTGTACATCATTAAGAGGT[C/T]GGTATGTCTTCTCATTTACTGGCAA

Phenotype

MIM: 601951 MIM: 615811

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CLK1 PubMed Links

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	688	Missense Mutation	CAA,CGA	Q146R	NP_115861.1
NM_130906.2	688	Missense Mutation	CAA,CGA	Q142R	NP_570981.1
XM_005246651.3	688	Missense Mutation	CAA,CGA	Q146R	XP_005246708.1
XM_005246652.4	688	Missense Mutation	CAA,CGA	Q142R	XP_005246709.1
XM_011511358.2	688	Missense Mutation	CAA,CGA	Q142R	XP_011509660.1
XM_017004352.1	688	Missense Mutation	CAA,CGA	Q146R	XP_016859841.1
XM_017004353.1	688	Missense Mutation	CAA,CGA	Q146R	XP_016859842.1
XM_017004354.1	688	Intron			XP_016859843.1
XM_017004355.1	688	Intron			XP_016859844.1
XM_017004356.1	688	Intron			XP_016859845.1
XM_017004357.1	688	Missense Mutation	CAA,CGA	Q93R	XP_016859846.1
XM_017004358.1	688	Missense Mutation	CAA,CGA	Q93R	XP_016859847.1
XM_017004359.1	688	Missense Mutation	CAA,CGA	Q93R	XP_016859848.1
XM_017004360.1	688	Missense Mutation	CAA,CGA	Q93R	XP_016859849.1

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