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SNP ID

rs147778026

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:23000344 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAATCTGAAGCAAAAGTCAGAATTT[C/T]TGGCAATAGGGAAATGAAAGCAAAG

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	384	Missense Mutation	TCT,TTT	S96F	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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