Product Details

SNP ID
rs12816356
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:131950497 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGATGGGACGTCCAGAACCACTTTC[A/C]TGAGGCGCGACGGGGCGAATTCACT
Phenotype
MIM: 606265 MIM: 608109
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
EP400 PubMed Links

Gene Details

Gene
EP400
Gene Name
E1A binding protein p400
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015409.4 Intron NP_056224.3
Gene
PUS1
Gene Name
pseudouridylate synthase 1
There are no transcripts associated with this gene.

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