Product Details

SNP ID
rs142048670
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:101837539 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGGGAGGAAGCAGGTGTTCACGGT[A/C]TGGTACCACATGTCCACCAGGATGG
Phenotype
MIM: 300319
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
NXF5 PubMed Links

Gene Details

Gene
NXF5
Gene Name
nuclear RNA export factor 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_032946.2 1395 Missense Mutation CAG,CAT Q345H NP_116564.2

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