Product Details
- SNP ID
-
rs28365112
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.3:53497348 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TCTCCCAAAGAAAACGTCAGCAATA[C/T]GCCAAGAGCAAAAAACAGGGTAACT
- Phenotype
-
MIM: 114206
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CACNA1D
PubMed Links
Gene Details
- Gene
- CACNA1D
- Gene Name
- calcium voltage-gated channel subunit alpha1 D
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_000720.3 |
390 |
Silent Mutation |
TAC,TAT |
Y88Y |
NP_000711.1 |
NM_001128839.2 |
390 |
Silent Mutation |
TAC,TAT |
Y88Y |
NP_001122311.1 |
NM_001128840.2 |
390 |
Silent Mutation |
TAC,TAT |
Y88Y |
NP_001122312.1 |
XM_005265448.3 |
390 |
Silent Mutation |
TAC,TAT |
Y88Y |
XP_005265505.1 |
XM_011534094.2 |
390 |
Silent Mutation |
TAC,TAT |
Y125Y |
XP_011532396.1 |
XM_011534096.2 |
390 |
Silent Mutation |
TAC,TAT |
Y125Y |
XP_011532398.1 |
XM_011534097.2 |
390 |
Intron |
|
|
XP_011532399.1 |
XM_011534099.2 |
390 |
Intron |
|
|
XP_011532401.1 |
XM_011534100.2 |
390 |
Silent Mutation |
TAC,TAT |
Y125Y |
XP_011532402.1 |
XM_017007137.1 |
390 |
Silent Mutation |
TAC,TAT |
Y125Y |
XP_016862626.1 |
XM_017007138.1 |
390 |
Silent Mutation |
TAC,TAT |
Y125Y |
XP_016862627.1 |
XM_017007139.1 |
390 |
Silent Mutation |
TAC,TAT |
Y125Y |
XP_016862628.1 |
XM_017007140.1 |
390 |
Silent Mutation |
TAC,TAT |
Y125Y |
XP_016862629.1 |
XM_017007141.1 |
390 |
Silent Mutation |
TAC,TAT |
Y125Y |
XP_016862630.1 |
XM_017007142.1 |
390 |
Silent Mutation |
TAC,TAT |
Y125Y |
XP_016862631.1 |
XM_017007143.1 |
390 |
Silent Mutation |
TAC,TAT |
Y125Y |
XP_016862632.1 |
XM_017007144.1 |
390 |
Silent Mutation |
TAC,TAT |
Y125Y |
XP_016862633.1 |
XM_017007145.1 |
390 |
Silent Mutation |
TAC,TAT |
Y125Y |
XP_016862634.1 |
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