Product Details

SNP ID
rs201122014
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:56564815 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCCTTCCCGCACAGAAAATCGCGA[A/T]CCACTACCCAATCCATGGGCACCAC
Phenotype
MIM: 300264
Polymorphism
A/T, Transversion Substitution
Allele Nomenclature
Literature Links
UBQLN2 PubMed Links

Gene Details

Gene
UBQLN2
Gene Name
ubiquilin 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_013444.3 1223 Missense Mutation GAA,GAT E314D NP_038472.2

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