Product Details

SNP ID

rs144304339

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:112277987 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTTCTTGCAAGAGTGATCTTGGAG[A/G]TAAAATAAATTGAGTCTCAAAAAAT

Phenotype

MIM: 607347 MIM: 610851 MIM: 609028

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ALPK1 PubMed Links

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	712	Missense Mutation	CCT,TCT	P144S	NP_443096.1

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