Product Details

SNP ID

rs201718531

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:27760632 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGCCTCCAGCCTTACCCTTGTGCT[A/G]GGAGTCATGGAGCCGTTGCTGCCAG

Phenotype

MIM: 163730

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NOS2 PubMed Links

Gene Details

Gene

NOS2

Gene Name

nitric oxide synthase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000625.4	2862	Nonsense Mutation	CAG,TAG	Q1001*	NP_000616.3
XM_011524859.2	2862	Nonsense Mutation	CAG,TAG	Q1001*	XP_011523161.1
XM_011524860.2	2862	Nonsense Mutation	CAG,TAG	Q1000*	XP_011523162.1
XM_011524861.1	2862	Nonsense Mutation	CAG,TAG	Q977*	XP_011523163.1
XM_011524862.1	2862	Nonsense Mutation	CAG,TAG	Q779*	XP_011523164.1

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