Product Details
- SNP ID
-
rs114582555
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
17
- Location
-
Chr.1:1284002 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GGAGGCCAGAGGCTCCATCCTGCTT[C/G]AGAGCTGCCAGCTGCCCCCGCAATG
- Phenotype
-
MIM: 601328
- Polymorphism
- C/G, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
ACAP3
PubMed Links
Gene Details
- Gene
- ACAP3
- Gene Name
- ArfGAP with coiled-coil, ankyrin repeat and PH domains 3
There are no transcripts associated with this gene.
- Gene
- SCNN1D
- Gene Name
- sodium channel epithelial 1 delta subunit
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001130413.3 |
413 |
Missense Mutation |
CAG,GAG |
Q126E |
NP_001123885.2 |
XM_011541899.2 |
413 |
Missense Mutation |
CAG,GAG |
Q219E |
XP_011540201.1 |
XM_011541901.2 |
413 |
Missense Mutation |
CAG,GAG |
Q183E |
XP_011540203.1 |
XM_011541902.2 |
413 |
Missense Mutation |
CAG,GAG |
Q175E |
XP_011540204.1 |
XM_011541905.2 |
413 |
Missense Mutation |
CAG,GAG |
Q151E |
XP_011540207.1 |
XM_011541906.2 |
413 |
Nonsense Mutation |
TCA,TGA |
S171* |
XP_011540208.1 |
XM_011541908.2 |
413 |
Missense Mutation |
CAG,GAG |
Q119E |
XP_011540210.1 |
XM_011541920.2 |
413 |
Missense Mutation |
CAG,GAG |
Q60E |
XP_011540222.1 |
XM_011541925.2 |
413 |
Missense Mutation |
CAG,GAG |
Q28E |
XP_011540227.1 |
XM_011541929.2 |
413 |
UTR 5 |
|
|
XP_011540231.1 |
XM_011541932.2 |
413 |
UTR 5 |
|
|
XP_011540234.1 |
XM_011541933.2 |
413 |
UTR 5 |
|
|
XP_011540235.1 |
XM_017002037.1 |
413 |
Missense Mutation |
CAG,GAG |
Q219E |
XP_016857526.1 |
XM_017002038.1 |
413 |
Nonsense Mutation |
CAG,GAG |
Q170E |
XP_016857527.1 |
XM_017002039.1 |
413 |
Missense Mutation |
CAG,GAG |
Q134E |
XP_016857528.1 |
XM_017002040.1 |
413 |
Nonsense Mutation |
TCA,TGA |
S119* |
XP_016857529.1 |
XM_017002041.1 |
413 |
Missense Mutation |
CAG,GAG |
Q84E |
XP_016857530.1 |
XM_017002042.1 |
413 |
Missense Mutation |
CAG,GAG |
Q81E |
XP_016857531.1 |
XM_017002043.1 |
413 |
Missense Mutation |
CAG,GAG |
Q73E |
XP_016857532.1 |
XM_017002044.1 |
413 |
Missense Mutation |
CAG,GAG |
Q56E |
XP_016857533.1 |
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