Product Details

SNP ID
rs200611061
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:73316593 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAAAACTTTCCGGAAGAGCCTTTT[A/C]CACACGGTCAGCTTGATGTCAGCCT
Phenotype
MIM: 615732 MIM: 612548
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
NSUN5 PubMed Links

Gene Details

Gene
NSUN5
Gene Name
NOP2/Sun RNA methyltransferase family member 5
There are no transcripts associated with this gene.

Gene
TRIM50
Gene Name
tripartite motif containing 50
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001281450.1 972 Missense Mutation TGG,TGT W281C NP_001268379.1
NM_001281451.1 972 Missense Mutation TGG,TGT W282C NP_001268380.1
NM_178125.3 972 Missense Mutation TGG,TGT W282C NP_835226.2
XM_011515787.1 972 Missense Mutation TGG,TGT W282C XP_011514089.1
XM_011515788.2 972 Missense Mutation TGG,TGT W73C XP_011514090.1
XM_011515789.2 972 Missense Mutation TGG,TGT W281C XP_011514091.2

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