Product Details
- SNP ID
-
rs113503447
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:209775948 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ATGGCCTCTCTCCAGCTCTCTCTGA[A/G]GCCATCCAGAGCATTTCCAGATGGG
- Phenotype
-
MIM: 612636
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
UNC80
PubMed Links
Gene Details
- Gene
- UNC80
- Gene Name
- unc-80 homolog, NALCN activator
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_032504.1 |
281 |
Silent Mutation |
GAA,GAG |
E67E |
NP_115893.1 |
NM_182587.3 |
281 |
Silent Mutation |
GAA,GAG |
E67E |
NP_872393.3 |
XM_005246476.1 |
281 |
Silent Mutation |
GAA,GAG |
E67E |
XP_005246533.1 |
XM_011511004.1 |
281 |
Silent Mutation |
GAA,GAG |
E67E |
XP_011509306.1 |
XM_011511005.1 |
281 |
Silent Mutation |
GAA,GAG |
E67E |
XP_011509307.1 |
XM_011511006.1 |
281 |
Silent Mutation |
GAA,GAG |
E67E |
XP_011509308.1 |
XM_011511007.1 |
281 |
Silent Mutation |
GAA,GAG |
E67E |
XP_011509309.1 |
XM_011511008.1 |
281 |
Silent Mutation |
GAA,GAG |
E67E |
XP_011509310.1 |
XM_011511010.2 |
281 |
Silent Mutation |
GAA,GAG |
E67E |
XP_011509312.1 |
XM_011511012.1 |
281 |
Silent Mutation |
GAA,GAG |
E67E |
XP_011509314.1 |
XM_017003884.1 |
281 |
Silent Mutation |
GAA,GAG |
E67E |
XP_016859373.1 |
XM_017003885.1 |
281 |
Silent Mutation |
GAA,GAG |
E67E |
XP_016859374.1 |
XM_017003886.1 |
281 |
Silent Mutation |
GAA,GAG |
E67E |
XP_016859375.1 |
XM_017003887.1 |
281 |
Silent Mutation |
GAA,GAG |
E67E |
XP_016859376.1 |
XM_017003888.1 |
281 |
Silent Mutation |
GAA,GAG |
E67E |
XP_016859377.1 |
XM_017003889.1 |
281 |
Silent Mutation |
GAA,GAG |
E67E |
XP_016859378.1 |
XM_017003890.1 |
281 |
Silent Mutation |
GAA,GAG |
E67E |
XP_016859379.1 |
XM_017003891.1 |
281 |
UTR 5 |
|
|
XP_016859380.1 |
XM_017003892.1 |
281 |
Intron |
|
|
XP_016859381.1 |
XM_017003893.1 |
281 |
Silent Mutation |
GAA,GAG |
E67E |
XP_016859382.1 |
XM_017003894.1 |
281 |
Intron |
|
|
XP_016859383.1 |
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