Product Details

SNP ID

rs150497669

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:119936407 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTTTTCTTGGACCTTTCTTTTGAA[C/T]GGCTAGACTTCTTCTTTTTTTCTTC

Phenotype

MIM: 300766

Polymorphism

C/T, Transition 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	730	Missense Mutation	CAT,CGT	H188R	NP_078804.2
XM_017029842.1	730	Missense Mutation	CAT,CGT	H89R	XP_016885331.1

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