Product Details

SNP ID

rs144289367

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:48858154 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCAGACACAGCATGGATGCCGTCC[A/G]AAAGATGCTGTGGATGCTCTTTTCT

Phenotype

MIM: 612172 MIM: 609038

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DDX23 PubMed Links

Gene Details

Gene

DDX23

Gene Name

DEAD-box helicase 23

There are no transcripts associated with this gene.

Gene

RND1

Gene Name

Rho family GTPase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014470.3	644	Missense Mutation	CGG,TGG	R181W	NP_055285.1

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