Product Details
- SNP ID
-
rs141668847
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.14:68874904 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ACAGCGCCGTGGAGAAGGACATGTA[C/G]TCCAGAGCACCTGGCACGGAGTCGG
- Phenotype
-
MIM: 102575
- Polymorphism
- C/G, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
ACTN1
PubMed Links
Gene Details
- Gene
- ACTN1
- Gene Name
- actinin alpha 1
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001102.3 |
3586 |
Silent Mutation |
GAC,GAG |
D878E |
NP_001093.1 |
| NM_001130004.1 |
3586 |
Silent Mutation |
GAC,GAG |
D900E |
NP_001123476.1 |
| NM_001130005.1 |
3586 |
Silent Mutation |
GAC,GAG |
D873E |
NP_001123477.1 |
| XM_011537265.2 |
3586 |
Silent Mutation |
GAC,GAG |
D915E |
XP_011535567.1 |
| XM_011537266.2 |
3586 |
Silent Mutation |
GAC,GAG |
D910E |
XP_011535568.1 |
| XM_011537267.2 |
3586 |
Silent Mutation |
GAC,GAG |
D907E |
XP_011535569.1 |
| XM_011537268.2 |
3586 |
Silent Mutation |
GAC,GAG |
D902E |
XP_011535570.1 |
| XM_017021720.1 |
3586 |
Silent Mutation |
GAC,GAG |
D1092E |
XP_016877209.1 |
| XM_017021721.1 |
3586 |
Silent Mutation |
GAC,GAG |
D1084E |
XP_016877210.1 |
| XM_017021722.1 |
3586 |
Silent Mutation |
GAC,GAG |
D1063E |
XP_016877211.1 |
| XM_017021723.1 |
3586 |
Silent Mutation |
GAC,GAG |
D1055E |
XP_016877212.1 |
| XM_017021725.1 |
3586 |
Silent Mutation |
GAC,GAG |
D1042E |
XP_016877214.1 |
| XM_017021726.1 |
3586 |
Missense Mutation |
GAC,GAG |
D1034E |
XP_016877215.1 |
| XM_017021727.1 |
3586 |
Silent Mutation |
GAC,GAG |
D881E |
XP_016877216.1 |
| XM_017021728.1 |
3586 |
Silent Mutation |
GAC,GAG |
D852E |
XP_016877217.1 |
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