Product Details
- SNP ID
-
rs200684312
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.17:7356626 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCCACCACCTCCAAGCAAAAAGTGG[C/T]TTGTGAAGACGCTGAAAACCTCCCA
- Phenotype
-
MIM: 607763
MIM: 609848
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
ACAP1
PubMed Links
Gene Details
- Gene
- ACAP1
- Gene Name
- ArfGAP with coiled-coil, ankyrin repeat and PH domains 1
There are no transcripts associated with this gene.
- Gene
- KCTD11
- Gene Name
- potassium channel tetramerization domain containing 11
There are no transcripts associated with this gene.
- Gene
- TMEM95
- Gene Name
- transmembrane protein 95
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001320435.1 |
447 |
Missense Mutation |
CTT,TTT |
L173F |
NP_001307364.1 |
| NM_001320436.1 |
447 |
Silent Mutation |
GGC,GGT |
G175G |
NP_001307365.1 |
| NM_198154.2 |
447 |
Silent Mutation |
GGC,GGT |
G183G |
NP_937797.1 |
| XM_017024565.1 |
447 |
Missense Mutation |
GCT,GTT |
A146V |
XP_016880054.1 |
| XM_017024566.1 |
447 |
Missense Mutation |
GCT,GTT |
A119V |
XP_016880055.1 |
| XM_017024567.1 |
447 |
Missense Mutation |
GCT,GTT |
A112V |
XP_016880056.1 |
| XM_017024568.1 |
447 |
Silent Mutation |
GGC,GGT |
G175G |
XP_016880057.1 |
| XM_017024569.1 |
447 |
Silent Mutation |
GGC,GGT |
G175G |
XP_016880058.1 |
| XM_017024570.1 |
447 |
Missense Mutation |
CTT,TTT |
L86F |
XP_016880059.1 |
| XM_017024571.1 |
447 |
Missense Mutation |
GCT,GTT |
A146V |
XP_016880060.1 |
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