Product Details

SNP ID: rs200825321
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.17:7353633 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CAACTCCAGGTCTCTGCGCTTTGTC[C/T]GGCACTGAGGATGCTGTTCTCAGTT
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	1745	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	1745	Missense Mutation	CGG,TGG	R231W	NP_001002914.1

Gene: TMEM95
Gene Name: transmembrane protein 95

There are no transcripts associated with this gene.

View Full Product Details