Product Details

SNP ID
rs11550738
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:46839529 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTGTCATTGACATCCACACAGATG[C/G]AGAAGTAGAGGCCAGCATAGCGGCG
Phenotype
MIM: 602242
Polymorphism
C/G, Transversion 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_001301076.1 410 Missense Mutation TCC,TGC S84C NP_001288005.1
NM_001301078.1 410 Missense Mutation TCC,TGC S82C NP_001288007.1
NM_001301081.1 410 Missense Mutation TCC,TGC S70C NP_001288010.1
NM_004069.4 410 Missense Mutation TCC,TGC S68C NP_004060.2
NM_021575.3 410 Intron NP_067586.1
XM_011526423.2 410 Missense Mutation TCC,TGC S98C XP_011524725.1
XM_011526424.2 410 Missense Mutation TCC,TGC S84C XP_011524726.1
Gene
SNAR-E
Gene Name
small ILF3/NF90-associated RNA E
There are no transcripts associated with this gene.

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