Product Details
- SNP ID
-
rs62636490
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:219418784 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GGAGTTTCTGACCACGCGCACCAAC[A/G]AGAAGGTGGAGCTGCAGGAGCTCAA
- Phenotype
-
MIM: 125660
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
DES
PubMed Links
Gene Details
- Gene
- DES
- Gene Name
- desmin
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001927.3 |
408 |
Missense Mutation |
AAG,GAG |
K108E |
NP_001918.3 |
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