Product Details

SNP ID: hCV27853412
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.17:7354388 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GATGTATAGGTCCCTGGCATCCTGG[A/T]TCATATCTGTGTTGCTGACTACAGT
Phenotype: MIM: 607763 MIM: 609848
Polymorphism: A/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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014716.3	2500	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	2500	UTR 3			NP_001002914.1

Gene: TMEM95
Gene Name: transmembrane protein 95

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001320435.1	2500	Intron			NP_001307364.1
NM_001320436.1	2500	Intron			NP_001307365.1
NM_198154.2	2500	Intron			NP_937797.1

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