Product Details

SNP ID
hCV89377744
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:27760664 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGGAGCCGTTGCTGCCAGAAACTG[A/C]GGAAGGGCGCGATGCCTGTGCCAGG
Phenotype
MIM: 163730
Polymorphism
A/C, Transversion 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 3233 Missense Mutation CGC,CTC R990L NP_000616.3

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