Product Details

SNP ID

rs139437228

Assay Type

Functionally Tested

NCBI dbSNP Submissions

3

Location

Chr.1:36341876 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAACTGCCGCTTGGGTACCCAGCTC[C/T]GGGCGTCATGGATGGAGCTCTTCTC

Phenotype

MIM: 609437

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

STK40 PubMed Links

Additional Information

For this assay, SNP(s) [rs3795498] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

STK40

Gene Name

serine/threonine kinase 40

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001282546.1	1637	Missense Mutation	CAG,CGG	Q401R	NP_001269475.1
NM_001282547.1	1637	Missense Mutation	CAG,CGG	Q396R	NP_001269476.1
NM_032017.2	1637	Missense Mutation	CAG,CGG	Q396R	NP_114406.1

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