Product Details

SNP ID: rs112812573
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.17:7353475 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GAGTATGGGAGACTGGGGCTGCAGC[C/T]GCTGTGGACTGGGGGGCCAGGAGAG
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	1587	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	1587	Missense Mutation	CCG,CTG	P178L	NP_001002914.1

Gene: TMEM95
Gene Name: transmembrane protein 95

There are no transcripts associated with this gene.

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