Product Details

SNP ID
rs143736302
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:56564232 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCACGCAGCCTAGCAATGCCGCGG[C/G]AACTAACACTACCTCGGCGTCGACT
Phenotype
MIM: 300264
Polymorphism
C/G, 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_013444.3 640 Missense Mutation GCA,GGA A120G NP_038472.2

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