Product Details

SNP ID

rs200666130

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:49705640 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTACCTCCACATTCCTCTATTAT[A/T]TCAGCTATTGTGCTTGCTTCATCAC

Phenotype

MIM: 601892

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

KPNA3 PubMed Links

Gene Details

Gene

KPNA3

Gene Name

karyopherin subunit alpha 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002267.3	1451	Missense Mutation	GAA,GAT	E451D	NP_002258.2
XM_017020561.1	1451	Missense Mutation	GAA,GAT	E427D	XP_016876050.1

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