Product Details

SNP ID
rs200068321
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:78104044 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATAGTAACATGAGTAAGATTTTAA[C/T]GGGAAGTTCTGTTAAAAGAATAGAA
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 1350 Missense Mutation ATT,GTT I429V NP_001007028.1
NM_024079.4 1350 Missense Mutation ATT,GTT I429V NP_076984.2
XM_005274247.3 1350 Missense Mutation ATT,GTT I420V XP_005274304.1
XM_011545252.2 1350 Missense Mutation ATT,GTT I341V XP_011543554.1
XM_017018274.1 1350 Missense Mutation ATT,GTT I420V XP_016873763.1

View Full Product Details