Product Details

SNP ID
rs139214770
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:7355850 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTGCCTCCCCAGAAATCAAAGAGG[C/T]TGTCTCCTCACTCCCTTCATATTGG
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_014716.3 308 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_001002914.2 308 Intron NP_001002914.1
Gene
TMEM95
Gene Name
transmembrane protein 95
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320435.1 308 Missense Mutation GCT,GTT A80V NP_001307364.1
NM_001320436.1 308 Missense Mutation GCT,GTT A80V NP_001307365.1
NM_198154.2 308 Missense Mutation GCT,GTT A80V NP_937797.1
XM_017024565.1 308 Missense Mutation GCT,GTT A80V XP_016880054.1
XM_017024566.1 308 Intron XP_016880055.1
XM_017024567.1 308 Intron XP_016880056.1
XM_017024568.1 308 Missense Mutation GCT,GTT A80V XP_016880057.1
XM_017024569.1 308 Missense Mutation GCT,GTT A80V XP_016880058.1
XM_017024570.1 308 Intron XP_016880059.1
XM_017024571.1 308 Missense Mutation GCT,GTT A80V XP_016880060.1

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