Product Details

SNP ID

rs201787127

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:69713060 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCAGAGAATGACATTCATGTCCC[C/T]GTGGATCCCTTGCAGAGAGTACATG

Phenotype

MIM: 604708 MIM: 125860

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

NFAT5 PubMed Links

Gene Details

Gene

NFAT5

Gene Name

nuclear factor of activated T-cells 5, tonicity-responsive

There are no transcripts associated with this gene.

Gene

NQO1

Gene Name

NAD(P)H quinone dehydrogenase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000903.2	678	Missense Mutation	AGG,GGG	R163G	NP_000894.1
NM_001025433.1	678	Intron			NP_001020604.1
NM_001025434.1	678	Missense Mutation	AGG,GGG	R125G	NP_001020605.1
NM_001286137.1	678	Intron			NP_001273066.1

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