Product Details

SNP ID
rs199523581
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:11133472 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGCAGGGGTCTTGCTGGTGGCTG[A/C]CAGGCCCCCCAGGCTCTGAAGGCGC
Phenotype
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
C2orf50 PubMed Links

Gene Details

Gene
C2orf50
Gene Name
chromosome 2 open reading frame 50
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_182500.2 420 Nonsense Mutation TGA,TGC *46C NP_872306.1
XM_006711857.2 420 Nonsense Mutation TGA,TGC *46C XP_006711920.1
XM_006711858.2 420 Nonsense Mutation TGA,TGC *46C XP_006711921.1
XM_006711859.3 420 Nonsense Mutation TGA,TGC *46C XP_006711922.1
Gene
FLJ33534
Gene Name
uncharacterized LOC285150
There are no transcripts associated with this gene.

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