Product Details

SNP ID

rs17851290

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:119932116 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATCAGAAGAACCTACTTGTTCGAT[A/C]CTTCCAGGGATTTTCCAGAAACTCT

Phenotype

MIM: 300766

Polymorphism

A/C, 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	1005	Missense Mutation	GAT,TAT	D280Y	NP_078804.2
XM_017029842.1	1005	Missense Mutation	GAT,TAT	D181Y	XP_016885331.1

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