Product Details

SNP ID

rs201782461

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:178613558 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAAGCTGTTTTCTTTAATGAAATC[C/G]TAAGTACTAAGTCCCAGTAGTTCAA

Phenotype

MIM: 607969

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CLK4 PubMed Links

Gene Details

Gene

CLK4

Gene Name

CDC like kinase 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020666.2	849	Nonsense Mutation	TAC,TAG	Y247*	NP_065717.1

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