Product Details

SNP ID

rs34393297

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:114942666 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATAGAAGCTGGAATGCCTTCTCCAG[A/C]ATGGACCAAGAGGAAAAAGCAGACT

Phenotype

MIM: 610726

Polymorphism

A/C, Transversion 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	369	Missense Mutation	GAA,GCA	E103A	NP_631908.1

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