Product Details

SNP ID

rs11543306

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:132145592 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGCCACACGGAAGTACAAGGTGT[A/G]GATGAGACACCGCTATCACAGCTGC

Phenotype

MIM: 612819

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DDX51 PubMed Links

Gene Details

Gene

DDX51

Gene Name

DEAD-box helicase 51

There are no transcripts associated with this gene.

Gene

NOC4L

Gene Name

nucleolar complex associated 4 homolog

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024078.2	339	Nonsense Mutation	TAG,TGG	*91W	NP_076983.1
XM_017019960.1	339	Nonsense Mutation	TAG,TGG	*91W	XP_016875449.1

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