Product Details

SNP ID

rs147245711

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:68022311 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTCTAAGATGTAGTCCACCAGTT[C/G]CAGGAAGCTTTCATCCAGCAGTGTG

Phenotype

MIM: 607618 MIM: 609707

Polymorphism

C/G, 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	1557	Missense Mutation	CAA,GAA	Q298E	NP_060850.2

Gene

DUS2

Gene Name

dihydrouridine synthase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001271762.1	1557	Intron			NP_001258691.1
NM_001271763.1	1557	Intron			NP_001258692.1
NM_017803.4	1557	Intron			NP_060273.1

Gene

LOC100131303

Gene Name

uncharacterized LOC100131303

There are no transcripts associated with this gene.

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