Product Details

SNP ID
rs142055694
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:109542630 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGACTGCTCAGTCCACTCCCAACA[A/G]TACTGTGTGGAAGATTGCAAGTGAT
Phenotype
MIM: 300320
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
NXT2 PubMed Links

Gene Details

Gene
NXT2
Gene Name
nuclear transport factor 2 like export factor 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001242617.1 548 Missense Mutation AAT,AGT N124S NP_001229546.1
NM_001242618.1 548 Missense Mutation AAT,AGT N96S NP_001229547.1
NM_018698.4 548 Missense Mutation AAT,AGT N179S NP_061168.2
XM_011530989.2 548 Missense Mutation AAT,AGT N123S XP_011529291.1
XM_017029648.1 548 Missense Mutation AAT,AGT N96S XP_016885137.1

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