Product Details
- SNP ID
-
rs142458192
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
5
- Location
-
Chr.1:1285599 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCCTGGGCCTGTGGCTCCCCAGAGG[C/T]CCTGCCACCTGAAGGGATGGCAGCA
- Phenotype
-
MIM: 601328
- Polymorphism
- C/T, Transition 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 |
530 |
Missense Mutation |
CCC,TCC |
P165S |
NP_001123885.2 |
XM_011541899.2 |
530 |
Missense Mutation |
CCC,TCC |
P258S |
XP_011540201.1 |
XM_011541901.2 |
530 |
Missense Mutation |
CCC,TCC |
P222S |
XP_011540203.1 |
XM_011541902.2 |
530 |
Missense Mutation |
CCC,TCC |
P214S |
XP_011540204.1 |
XM_011541905.2 |
530 |
Missense Mutation |
CCC,TCC |
P190S |
XP_011540207.1 |
XM_011541906.2 |
530 |
Intron |
|
|
XP_011540208.1 |
XM_011541908.2 |
530 |
Missense Mutation |
CCC,TCC |
P158S |
XP_011540210.1 |
XM_011541920.2 |
530 |
Missense Mutation |
CCC,TCC |
P99S |
XP_011540222.1 |
XM_011541925.2 |
530 |
Missense Mutation |
CCC,TCC |
P67S |
XP_011540227.1 |
XM_011541929.2 |
530 |
Missense Mutation |
CCC,TCC |
P59S |
XP_011540231.1 |
XM_011541932.2 |
530 |
Intron |
|
|
XP_011540234.1 |
XM_011541933.2 |
530 |
Intron |
|
|
XP_011540235.1 |
XM_017002037.1 |
530 |
Missense Mutation |
CCC,TCC |
P258S |
XP_016857526.1 |
XM_017002038.1 |
530 |
Missense Mutation |
CCC,TCC |
P209S |
XP_016857527.1 |
XM_017002039.1 |
530 |
Missense Mutation |
CCC,TCC |
P173S |
XP_016857528.1 |
XM_017002040.1 |
530 |
Intron |
|
|
XP_016857529.1 |
XM_017002041.1 |
530 |
Missense Mutation |
CCC,TCC |
P123S |
XP_016857530.1 |
XM_017002042.1 |
530 |
Missense Mutation |
CCC,TCC |
P120S |
XP_016857531.1 |
XM_017002043.1 |
530 |
Missense Mutation |
CCC,TCC |
P112S |
XP_016857532.1 |
XM_017002044.1 |
530 |
Missense Mutation |
CCC,TCC |
P95S |
XP_016857533.1 |
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