Product Details

SNP ID

rs78599594

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:24676289 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGGCGGTCAAGGCCAGGAAGCCCA[C/T]CCCAGCCACTCTCCTGGAGGAGACC

Phenotype

MIM: 610922

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

NPAP1 PubMed Links

Gene Details

Gene

NPAP1

Gene Name

nuclear pore associated protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018958.2	896	Missense Mutation	ACC,ATC	T141I	NP_061831.2

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