Product Details

SNP ID
rs199978716
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:23000403 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCTATAGAAACACTTATTAGAAAA[C/G]AAGAAAGCTACAACTCAGAATCCAG
Phenotype
Polymorphism
C/G, Transversion 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_182699.3 443 Missense Mutation CAA,GAA Q116E 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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