Product Details

SNP ID
rs142847241
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:112908561 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTGGCTCCTCAGGCAAGGGCACCA[C/T]CCTCAGAGGCCGATCTGACGCTGAC
Phenotype
MIM: 164350 MIM: 612159
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
OAS1 PubMed Links

Gene Details

Gene
OAS1
Gene Name
2'-5'-oligoadenylate synthetase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001032409.2 296 Missense Mutation ACC,ATC T69I NP_001027581.1
NM_001320151.1 296 Missense Mutation ACC,ATC T69I NP_001307080.1
NM_002534.3 296 Missense Mutation ACC,ATC T69I NP_002525.2
NM_016816.3 296 Missense Mutation ACC,ATC T69I NP_058132.2
XM_006719434.1 296 Missense Mutation ACC,ATC T69I XP_006719497.1
XM_011538413.1 296 Missense Mutation ACC,ATC T69I XP_011536715.1
XM_017019361.1 296 Missense Mutation ACC,ATC T69I XP_016874850.1
XM_017019362.1 296 UTR 5 XP_016874851.1
Gene
RPH3A
Gene Name
rabphilin 3A
There are no transcripts associated with this gene.

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