Product Details

SNP ID
rs201567985
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:47241440 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCCACCACCGCTCCATTGTGCCAC[A/G]TGTGTTCAAGGTGTGACTCAACCCT
Phenotype
MIM: 300050
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
USP11 PubMed Links

Gene Details

Gene
USP11
Gene Name
ubiquitin specific peptidase 11
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004651.3 1139 Missense Mutation CAT,CGT H380R NP_004642.2
XM_005272674.3 1139 Missense Mutation CAT,CGT H107R XP_005272731.1
XM_011543988.1 1139 Missense Mutation CAT,CGT H107R XP_011542290.1

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