Product Details

SNP ID
rs143607039
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.10:114942732 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAGGGACTCTAGACAGCGCAGCCC[A/G]AGGAGTTCTGGGTAAGAGATATGAA
Phenotype
MIM: 610726
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
TRUB1 PubMed Links

Gene Details

Gene
TRUB1
Gene Name
TruB pseudouridine synthase family member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_139169.4 435 Missense Mutation CAA,CGA Q125R NP_631908.1

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