Product Details

SNP ID
rs146819825
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:112534296 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGAACTCCAAGTTCTCCCCCTCCT[G/T]CTGCAACAGTCTCAATGATTTTCTT
Phenotype
MIM: 609606
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
ATG3 PubMed Links

Gene Details

Gene
ATG3
Gene Name
autophagy related 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278712.1 881 Missense Mutation GAA,GCA E279A NP_001265641.1
NM_022488.4 881 Missense Mutation GAA,GCA E279A NP_071933.2
XM_011513074.1 881 Missense Mutation GAA,GCA E192A XP_011511376.1

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