Product Details

SNP ID

rs17854798

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:68042984 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTTGGCTCTCCTTGCAGTTCCTGA[T/G]ATGTCATCTTTAGCAGTAAGTTACT

Phenotype

MIM: 600685

Polymorphism

T/G, Transversion substitution

Allele Nomenclature

Literature Links

KPNA2 PubMed Links

Gene Details

Gene

KPNA2

Gene Name

karyopherin subunit alpha 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001320611.1	1271	Missense Mutation	GAG,GAT	E217D	NP_001307540.1
NM_002266.3	1271	Intron			NP_002257.1

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