Product Details

SNP ID
rs145256308
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:68021783 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGTAATCTTGCAGCGTTGGGGGGA[A/T]ATCATAATTGACAACCAGCTCCACA
Phenotype
MIM: 607618 MIM: 609707
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
DDX28 PubMed Links

Gene Details

Gene
DDX28
Gene Name
DEAD-box helicase 28
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018380.3 2085 Missense Mutation ATC,TTC I474F NP_060850.2
Gene
DUS2
Gene Name
dihydrouridine synthase 2
There are no transcripts associated with this gene.

Gene
LOC100131303
Gene Name
uncharacterized LOC100131303
There are no transcripts associated with this gene.

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