Product Details

SNP ID

rs147398347

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:43949774 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCATGTGCTGTGGCAGATATGGTA[C/T]GACTCTTCCAGGCTGAGGACTCACC

Phenotype

MIM: 610411

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

IPO13 PubMed Links

Gene Details

Gene

IPO13

Gene Name

importin 13

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014652.3	1237	Nonsense Mutation	CGA,TGA	R148*	NP_055467.3

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