Product Details
- SNP ID
-
rs193190607
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
18
- Location
-
Chr.1:225985466 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CATTTGAGCTTCTCCAAACCCAGCA[A/T]CTCCAGTTCTGCAACAGAGGTGAAC
- Phenotype
-
- Polymorphism
- A/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
SDE2
PubMed Links
Gene Details
- Gene
- SDE2
- Gene Name
- SDE2 telomere maintenance homolog
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_152608.3 |
1245 |
Missense Mutation |
ATG,TTG |
M398L |
NP_689821.3 |
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