Product Details

SNP ID
hCV88843010
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:151012376 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCTCCCTCCTTCCGGCTGCCACCC[G/T]ATCCCAGCTTGCCCTGCATCCTGGT
Phenotype
MIM: 612205 MIM: 163729
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
ATG9B PubMed Links

Gene Details

Gene
ATG9B
Gene Name
autophagy related 9B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001317056.1 3306 Intron NP_001303985.1
Gene
NOS3
Gene Name
nitric oxide synthase 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000603.4 3306 Missense Mutation GAT,TAT D1004Y NP_000594.2
NM_001160109.1 3306 Intron NP_001153581.1
NM_001160110.1 3306 Intron NP_001153582.1
NM_001160111.1 3306 Intron NP_001153583.1

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