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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