Product Details

SNP ID

rs199732553

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.4:112277917 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAACTGCTTTGGGAGGAGCAGAGC[A/G]AATAAGTGCCATACTCCGGTATGGG

Phenotype

MIM: 607347 MIM: 610851 MIM: 609028

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

ALPK1 PubMed Links

Additional Information

For this assay, SNP(s) [rs701759] 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

ALPK1

Gene Name

alpha kinase 1

There are no transcripts associated with this gene.

Gene

AP1AR

Gene Name

adaptor related protein complex 1 associated regulatory protein

There are no transcripts associated with this gene.

Gene

TIFA

Gene Name

TRAF interacting protein with forkhead associated domain

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_052864.2	782	Missense Mutation	TCG,TTG	S167L	NP_443096.1

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