Product Details

SNP ID
rs147086735
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:7353398 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGTGGGGATAGGGCAGAGGGGAG[C/T]CCACATTTTCATCTGGAGTGGGCCC
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
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014716.3 1510 Intron NP_055531.1
Gene
KCTD11
Gene Name
potassium channel tetramerization domain containing 11
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001002914.2 1510 Silent Mutation AGC,AGT S152S NP_001002914.1
Gene
TMEM95
Gene Name
transmembrane protein 95
There are no transcripts associated with this gene.

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