Product Details

SNP ID

rs199714840

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:47650256 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGCCACCTCCGCCATGGAGCTGAT[A/C]ACCATTCTCGAGAAGACCGTGTCTC

Phenotype

MIM: 602738

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

KPNB1 PubMed Links

Gene Details

Gene

KPNB1

Gene Name

karyopherin subunit beta 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001276453.1	419	Intron			NP_001263382.1
NM_002265.5	419	Silent Mutation	ATA,ATC	I4I	NP_002256.2

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