Product Details

SNP ID
rs139160700
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:121020956 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGCCAGAGTAGCCCCTGGTCCTCC[A/G]GATTTTCTCTTTAACCTTCCTTATG
Phenotype
MIM: 603281
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
C12orf43 PubMed Links

Gene Details

Gene
C12orf43
Gene Name
chromosome 12 open reading frame 43
There are no transcripts associated with this gene.

Gene
OASL
Gene Name
2'-5'-oligoadenylate synthetase like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001261825.1 1421 Missense Mutation CGG,TGG R254W NP_001248754.1
NM_003733.3 1421 Missense Mutation CGG,TGG R384W NP_003724.1
NM_198213.2 1421 UTR 3 NP_937856.1
XM_017020140.1 1421 Intron XP_016875629.1
XM_017020141.1 1421 Intron XP_016875630.1

View Full Product Details