Product Details
- SNP ID
-
rs138867475
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.6:96524384 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AAATGAATGTCTTTTCTTCAAAGGT[C/T]GAGTAAACATTGTTGATCTACAACA
- Phenotype
-
MIM: 613372
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
UFL1
PubMed Links
Gene Details
- Gene
- UFL1
- Gene Name
- UFM1 specific ligase 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_015323.4 |
274 |
Nonsense Mutation |
CGA,TGA |
R76* |
NP_056138.1 |
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