Product Details

SNP ID

rs11548926

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:38298814 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTCAGCATGTTCCAGTCAAAGACG[T/C]AGTCATAGGAGAAGCCCTGCCGGTG

Phenotype

MIM: 600863

Polymorphism

T/C, Transition substitution

Allele Nomenclature

Literature Links

CSNK1E PubMed Links

Gene Details

Gene

CSNK1E

Gene Name

casein kinase 1 epsilon

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001894.4	1323	Missense Mutation	TAC,TGC	Y286C	NP_001885.1
NM_152221.2	1323	Missense Mutation	TAC,TGC	Y286C	NP_689407.1

Gene

LOC400927-CSNK1E

Gene Name

LOC400927-CSNK1E readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001289912.1	1323	Missense Mutation	TAC,TGC	Y286C	NP_001276841.1

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