Basic Information

NOS3

Full name: nitric oxide synthase 3

Gene type: protein coding

HGNC ID: HGNC:7876

Gene location: 7q36.1

Gene resources

NCBI: https://www.ncbi.nlm.nih.gov/gene/4846

Alliance of genome: https://www.alliancegenome.org/gene/HGNC:7876

MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_000603.5

Protein resources

UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/P29474

AlphaFold: https://alphafold.ebi.ac.uk/entry/P29474

MEME motif:

Clinical resources

OMIM: https://www.omim.org/entry/163729

dbVar: https://www.ncbi.nlm.nih.gov/dbvar?LinkName=gene_dbvar&from_uid=4846

Pathway resources

KEGG pathway: https://www.genome.jp/pathway/hsa00220+4846

Variant resources

Gene	Disease type	Variant type	NCBI dbSNP	Alleles	Variant location
NOS3	AMD	Intron Variant	rs2070744	C>G / C>T	chr7:150992991 (GRCh38.p13)
NOS3	AMD	Missense Variant	rs1799983	T>A / T>G	chr7:150999023 (GRCh38.p13)
NOS3	nAMD		rs1800783
NOS3	nAMD	Intron Variant	rs3918186	A>T	chr7:151005344 (GRCh38.p13)
NOS3	nAMD	Intron Variant	rs3918188	C>A / C>T	chr7:151005693 (GRCh38.p13)
NOS3	nAMD	Non Coding Transcript Variant	rs7830	G>A	chr6:52189451 (GRCh38.p13)
NOS3	nAMD	Intron Variant	rs3918227	C>A / C>G	chr7:151003858 (GRCh38.p13)