Product Details

SNP ID
rs201924096
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:130791923 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCTAGGACAATGTTGTTGCTAGGA[A/T]AATTCCAAGGATCACAAGCAAAACA
Phenotype
MIM: 132350
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
STX2 PubMed Links

Gene Details

Gene
STX2
Gene Name
syntaxin 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001980.3 1139 Missense Mutation ATC,TTC I281F NP_001971.2
NM_194356.2 1139 UTR 3 NP_919337.1
XM_005253557.1 1139 Intron XP_005253614.1
XM_017018978.1 1139 UTR 3 XP_016874467.1
XM_017018979.1 1139 Intron XP_016874468.1
XM_017018980.1 1139 Missense Mutation ATC,TTC I313F XP_016874469.1
XM_017018981.1 1139 Intron XP_016874470.1
XM_017018982.1 1139 Intron XP_016874471.1
XM_017018983.1 1139 UTR 3 XP_016874472.1
XM_017018984.1 1139 UTR 3 XP_016874473.1
XM_017018985.1 1139 Missense Mutation ATC,TTC I207F XP_016874474.1
XM_017018986.1 1139 Intron XP_016874475.1
XM_017018987.1 1139 Intron XP_016874476.1
XM_017018988.1 1139 Intron XP_016874477.1
XM_017018989.1 1139 Intron XP_016874478.1

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