Product Details

SNP ID
rs150080027
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:46846071 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTCGATCAGCTTCTGTTTCTCATC[A/G]TCATCAAACTGCATGTACCACTTGG
Phenotype
MIM: 602242
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
AP2S1 PubMed Links

Gene Details

Gene
AP2S1
Gene Name
adaptor related protein complex 2 sigma 1 subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001301076.1 240 Silent Mutation GAC,GAT D41D NP_001288005.1
NM_001301078.1 240 Silent Mutation GAC,GAT D25D NP_001288007.1
NM_001301081.1 240 Silent Mutation GAC,GAT D27D NP_001288010.1
NM_004069.4 240 Silent Mutation GAC,GAT D25D NP_004060.2
NM_021575.3 240 Silent Mutation GAC,GAT D25D NP_067586.1
XM_011526423.2 240 Silent Mutation GAC,GAT D41D XP_011524725.1
XM_011526424.2 240 Silent Mutation GAC,GAT D27D XP_011524726.1

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