Product Details

SNP ID

rs147688413

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:47657005 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCAATGTCACAAACCCCAACAGCA[C/T]AGAGCACATGAAGGAGTCGACATTG

Phenotype

MIM: 602738

Polymorphism

C/T, Transition 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	510	UTR 5			NP_001263382.1
NM_002265.5	510	Missense Mutation	ACA,ATA	T143I	NP_002256.2

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