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SNP ID:
rs1799983
Gene
NOS3
Gene Name
Set Membership:
> HapMap
Chromosome Location:
Chr.7: 150999023 - 150999023 on Build GRCh38
Polymorphism:
G/T, Transversion substitution
Context Sequence [VIC/FAM]:

CCCTGCTGCTGCAGGCCCCAGATGA[G/T]CCCCCAGAACTCTTCCTTCTGCCCC

Assay ID C___3219460_20
Size
Availability Made To Order
Catalog # 4351379
Price
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Assay Details



Species:

 Human

dbSNP Submissions:

 NA

Phenotype:

 MIM: 163729

Literature Links:

 NOS3 PubMed Links

Allele Nomenclature:

Minor Allele Frequency:
1000Genome Applied Biosystems® HapMap
Global
T (0.18)
(0.82)
Caucasian - Not Available CEPH (CEU)
T (0.34)
(0.66)
EAS
T (0.13)
(0.87)
African American - Not Available YRI (Yoruba)
T (0.07)
(0.93)
SAS
T (0.17)
(0.83)
Chinese - Not Available JPT (Japanese)
T (0.07)
(0.93)
AFR
T (0.07)
(0.93)
Japanese - Not Available CHB (Han Chinese)
T (0.11)
(0.89)
EUR
T (0.34)
(0.66)
AMR
T (0.22)
(0.78)
NOS3 - nitric oxide synthase 3
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
NM_000603.4 947 Missense Mutation GAG,GAT E,D 298 NP_000594.2
NM_001160109.1 947 Missense Mutation GAG,GAT E,D 298 NP_001153581.1
NM_001160110.1 947 Missense Mutation GAG,GAT E,D 298 NP_001153582.1
NM_001160111.1 947 Missense Mutation GAG,GAT E,D 298 NP_001153583.1
XM_006716002.3 947 Missense Mutation GAG,GAT E,D 298 XP_006716065.1
XM_017012232.1 947 Missense Mutation GAG,GAT E,D 298 XP_016867721.1
XM_017012233.1 947 Missense Mutation GAG,GAT E,D 92 XP_016867722.1
XM_017012234.1 947 Missense Mutation GAG,GAT E,D 298 XP_016867723.1

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More Information


Set Membership:

 HapMap

Panther Classification:

Gene Ontology Categories:

Function(s) Process(es)


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