Product Details

SNP ID

rs200730907

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:132139675 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCTGGGACAGGGCCTCCTCGTAC[C/T]GAGGAACCAGCGGCTGCAGCAGCTT

Phenotype

MIM: 612819

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DDX51 PubMed Links

Gene Details

Gene

DDX51

Gene Name

DEAD-box helicase 51

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_175066.3	1973	Missense Mutation	CAG,CGG	Q645R	NP_778236.2
XM_011538256.1	1973	Intron			XP_011536558.1

Gene

NOC4L

Gene Name

nucleolar complex associated 4 homolog

There are no transcripts associated with this gene.

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