Product Details

SNP ID
rs199589882
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:78101109 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTACTTCACCTTCCAGGAGGTGAAA[A/G]GGAATACAAATTCACAGCAGACTTC
Phenotype
MIM: 608103
Polymorphism
A/G, 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 1501 UTR 3 NP_001007028.1
NM_024079.4 1501 Missense Mutation CCT,CTT P479L NP_076984.2
XM_005274247.3 1501 Missense Mutation CCT,CTT P470L XP_005274304.1
XM_011545252.2 1501 Missense Mutation CCT,CTT P391L XP_011543554.1
XM_017018274.1 1501 UTR 3 XP_016873763.1

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