Product Details
- SNP ID
-
rs146480140
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
3
- Location
-
Chr.1:229444949 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AAGTTTCTGTAAGATCTTCACAAAT[A/G]TACTGTCTTTAGATACTTCAATTGG
- Phenotype
-
MIM: 607613
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
NUP133
PubMed Links
Gene Details
- Gene
- NUP133
- Gene Name
- nucleoporin 133
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_018230.2 |
3391 |
Missense Mutation |
ACA,ATA |
T1100I |
NP_060700.2 |
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