Product Details
- SNP ID
-
rs140252282
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.X:101837616 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AATGCACTGAGGGAGTCCACGTTTC[A/G]TGGACATTTTGTGTGCTTTAGCAGC
- Phenotype
-
MIM: 300319
- Polymorphism
- A/G, Transition 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 |
1318 |
Nonsense Mutation |
CGA,TGA |
R320* |
NP_116564.2 |
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