Product Details

SNP ID
rs140063577
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:119934545 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTCTTGGCTTTCTTTGCTCTCCTT[G/T]TGTTATCTTCATCTGCAAATTAAAG
Phenotype
MIM: 300766
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
NKAP PubMed Links

Gene Details

Gene
NKAP
Gene Name
NFKB activating protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_024528.3 853 Missense Mutation NP_078804.2
XM_017029842.1 853 Missense Mutation XP_016885331.1

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