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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