Product Details

SNP ID
rs199563836
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.12:47711774 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCCAGCACATCGGGGTAAGAATCC[C/T]ACTGTGGAGGGAAGGGCAGAAAAGG
Phenotype
MIM: 606720 MIM: 611477
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
ENDOU PubMed Links

Gene Details

Gene
ENDOU
Gene Name
endonuclease, poly(U) specific
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001172439.1 1133 Nonsense Mutation TAG,TGG *325W NP_001165910.1
NM_001172440.1 1133 Nonsense Mutation TAG,TGG *262W NP_001165911.1
NM_006025.3 1133 Nonsense Mutation TAG,TGG *284W NP_006016.1
Gene
LOC105369748
Gene Name
uncharacterized LOC105369748
There are no transcripts associated with this gene.

Gene
RPAP3
Gene Name
RNA polymerase II associated protein 3
There are no transcripts associated with this gene.

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