Product Details

SNP ID
rs184974623
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:78101031 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGAAACATACAGTTTGAACCAAGCA[C/T]ATGTGATGCCTACTGCACAATACAC
Phenotype
MIM: 608103
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ALG8 PubMed Links

Gene Details

Gene
ALG8
Gene Name
ALG8, alpha-1,3-glucosyltransferase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001007027.2 1579 UTR 3 NP_001007028.1
NM_024079.4 1579 Missense Mutation TAT,TGT Y505C NP_076984.2
XM_005274247.3 1579 Missense Mutation TAT,TGT Y496C XP_005274304.1
XM_011545252.2 1579 Missense Mutation TAT,TGT Y417C XP_011543554.1
XM_017018274.1 1579 UTR 3 XP_016873763.1

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