Product Details

SNP ID

rs1042600

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:200855038 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTAAACCCAAGATAGTATTCAATA[A/T]GAATGCATCCTATGCTCCAGACATC

Phenotype

MIM: 601951

Polymorphism

A/T, Transversion 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	1287	Missense Mutation	CAT,CTT	H411L	NP_001155879.1
NM_004071.3	1287	Missense Mutation	CAT,CTT	H369L	NP_004062.2

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