Product Details

SNP ID
rs140510569
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:151012430 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCAGGCACTGGCATTGCCCCCTTC[C/T]GGGGATTCTGGCAGGAGCGGCTGCA
Phenotype
MIM: 612205 MIM: 163729
Polymorphism
C/T, Transition 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 3117 Intron NP_001303985.1
XM_011516065.1 3117 Intron XP_011514367.1
XM_011516066.2 3117 Intron XP_011514368.1
Gene
NOS3
Gene Name
nitric oxide synthase 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000603.4 3117 Missense Mutation CGG,TGG R1022W NP_000594.2
NM_001160109.1 3117 Intron NP_001153581.1
NM_001160110.1 3117 Intron NP_001153582.1
NM_001160111.1 3117 Intron NP_001153583.1
XM_006716002.3 3117 Intron XP_006716065.1
XM_017012232.1 3117 Missense Mutation CGG,TGG R1022W XP_016867721.1
XM_017012233.1 3117 Missense Mutation CGG,TGG R816W XP_016867722.1
XM_017012234.1 3117 Intron XP_016867723.1

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