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SNP ID: rs139239583
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.5:62580619 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CAGAATCCCCCATCCATGCGTGGCA[C/G]AGCATTACGTTATATTAACATTACA
Phenotype: MIM: 610889
Polymorphism: C/G, Transversion substitution
Allele Nomenclature
Literature Links: IPO11 PubMed Links

Gene Details

Gene: IPO11
Gene Name: importin 11

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001134779.1	1420	Intron			NP_001128251.1
NM_016338.4	1420	Intron			NP_057422.3

Gene: IPO11-LRRC70
Gene Name: IPO11-LRRC70 readthrough

There are no transcripts associated with this gene.

Gene: LRRC70
Gene Name: leucine rich repeat containing 70

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_181506.4	1420	Missense Mutation	ACA,AGA	T394R	NP_852607.3

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