Product Details

SNP ID

rs184001441

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:49706291 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTTAGCAAGCTGATGAATTATCA[A/T]AGGAATTAATCCAGCATCTATTACA

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	1212	Missense Mutation	ATG,TTG	M372L	NP_002258.2
XM_017020561.1	1212	Missense Mutation	ATG,TTG	M348L	XP_016876050.1

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