Product Details

SNP ID
rs141009084
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:121024047 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTTGTCATAGCAACAGTCCTGTTT[C/G]AGGCACTGGGAGGCCCTCTGAGCAA
Phenotype
MIM: 603281
Polymorphism
C/G, 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 1261 Intron NP_001248754.1
NM_003733.3 1261 Silent Mutation CTC,CTG L330L NP_003724.1
NM_198213.2 1261 Missense Mutation CAA,GAA Q250E NP_937856.1
XM_017020140.1 1261 Silent Mutation CTC,CTG L330L XP_016875629.1
XM_017020141.1 1261 Missense Mutation CAA,GAA Q250E XP_016875630.1

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