Product Details

SNP ID
rs140728746
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:7342063 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCCTGGGTCCACCAGAGCCCATGA[C/T]GGCGGTATGCGGAGGGTCTGCATCT
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_014716.3 433 Missense Mutation ACG,ATG T76M NP_055531.1
Gene
KCTD11
Gene Name
potassium channel tetramerization domain containing 11
There are no transcripts associated with this gene.

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