Product Details

SNP ID

rs184804713

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:200853989 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATCGATCGTGGTGAAAATATTTAC[A/G]TTTCCTAAAAATAAGTCAATATCCA

Phenotype

MIM: 601951

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CLK1 PubMed Links

Gene Details

Gene

CLK1

Gene Name

CDC like kinase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001162407.1	1406	Missense Mutation	CGT,TGT	R451C	NP_001155879.1
NM_004071.3	1406	Missense Mutation	CGT,TGT	R409C	NP_004062.2

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