Product Details

SNP ID
rs74961482
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:115841742 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTGAACGTTAGTAACGCAACATGT[A/G]TTTCTCCGCGACTACAGACCTCGGG
Phenotype
MIM: 601507 MIM: 609608
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
AP3S1 PubMed Links

Gene Details

Gene
AP3S1
Gene Name
adaptor related protein complex 3 sigma 1 subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001002924.2 137 UTR 5 NP_001002924.2
NM_001284.3 137 UTR 5 NP_001275.1
NM_001318090.1 137 UTR 5 NP_001305019.1
NM_001318091.1 137 UTR 5 NP_001305020.1
NM_001318093.1 137 UTR 5 NP_001305022.1
NM_001318094.1 137 UTR 5 NP_001305023.1
XM_011543136.2 137 Missense Mutation TAT,TGT Y2C XP_011541438.2
XM_017009024.1 137 Missense Mutation TAT,TGT Y2C XP_016864513.1
XM_017009025.1 137 Missense Mutation TAT,TGT Y2C XP_016864514.1
Gene
ATG12
Gene Name
autophagy related 12
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001277783.1 137 UTR 5 NP_001264712.1
NM_004707.3 137 UTR 5 NP_004698.3

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