Product Details

SNP ID

rs138419867

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:205303485 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTGAGCAGACCCTCAGTGCCTGTC[A/G]GTAGGTCGCTGTCACCTCCTGGCAG

Phenotype

MIM: 608131

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NUAK2 PubMed Links

Gene Details

Gene

NUAK2

Gene Name

NUAK family kinase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_030952.2	1272	Nonsense Mutation	CGA,TGA	R662*	NP_112214.2
XM_005245515.4	1272	Nonsense Mutation	CGA,TGA	R371*	XP_005245572.1

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