Product Details

SNP ID

rs4412516

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:23000242 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AAAATAAAGAACAATATGGTTGGTG[C/T]GGTCATTGGTTACAGTGGATCAAAA

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DDX53 PubMed Links

Gene Details

Gene

DDX53

Gene Name

DEAD-box helicase 53

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_182699.3	282	Missense Mutation	GCG,GTG	A62V	NP_874358.2

Gene

PTCHD1-AS

Gene Name

PTCHD1 antisense RNA (head to head)

There are no transcripts associated with this gene.

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