Product Details

SNP ID
rs12658478
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.5:115845486 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATATGTGAGAAATAGGAAGTTGCGC[A/C]CCTGTTTTGCTAAACAGAAGTTTTG
Phenotype
MIM: 601507 MIM: 609608
Polymorphism
A/C, Transversion 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 Intron NP_001002924.2
NM_001284.3 Intron NP_001275.1
NM_001318090.1 Intron NP_001305019.1
NM_001318091.1 Intron NP_001305020.1
NM_001318093.1 Intron NP_001305022.1
NM_001318094.1 Intron NP_001305023.1
XM_011543136.2 Intron XP_011541438.2
XM_017009024.1 Intron XP_016864513.1
XM_017009025.1 Intron XP_016864514.1
Gene
ATG12
Gene Name
autophagy related 12
There are no transcripts associated with this gene.

View Full Product Details