Product Details

SNP ID
rs140045104
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:121020753 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCAGACCCAGGATGAAGCTGTTGGG[G/T]TTGATGGCATAGGCGTAGCTCCCAC
Phenotype
MIM: 603281
Polymorphism
G/T, Transversion 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 1624 Missense Mutation AAA,AAC K321N NP_001248754.1
NM_003733.3 1624 Missense Mutation AAA,AAC K451N NP_003724.1
NM_198213.2 1624 UTR 3 NP_937856.1
XM_017020140.1 1624 Intron XP_016875629.1
XM_017020141.1 1624 Intron XP_016875630.1

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