Product Details
- SNP ID
-
rs201262789
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.17:7356629 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ACCACCTCCAAGCAAAAAGTGGCTT[G/T]TGAAGACGCTGAAAACCTCCCAGCC
- Phenotype
-
MIM: 607763
MIM: 609848
- Polymorphism
- G/T, Transversion 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 |
450 |
Missense Mutation |
GTG,TTG |
V174L |
NP_001307364.1 |
NM_001320436.1 |
450 |
Missense Mutation |
TTG,TTT |
L176F |
NP_001307365.1 |
NM_198154.2 |
450 |
Missense Mutation |
TTG,TTT |
L184F |
NP_937797.1 |
XM_017024565.1 |
450 |
Missense Mutation |
TGT,TTT |
C147F |
XP_016880054.1 |
XM_017024566.1 |
450 |
Missense Mutation |
TGT,TTT |
C120F |
XP_016880055.1 |
XM_017024567.1 |
450 |
Missense Mutation |
TGT,TTT |
C113F |
XP_016880056.1 |
XM_017024568.1 |
450 |
Missense Mutation |
TTG,TTT |
L176F |
XP_016880057.1 |
XM_017024569.1 |
450 |
Missense Mutation |
TTG,TTT |
L176F |
XP_016880058.1 |
XM_017024570.1 |
450 |
Missense Mutation |
GTG,TTG |
V87L |
XP_016880059.1 |
XM_017024571.1 |
450 |
Missense Mutation |
TGT,TTT |
C147F |
XP_016880060.1 |
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