Product Details

SNP ID
rs113969656
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:78101193 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATCCAATTAAAAAGAGGTTTTTCT[C/T]TTCTGAAGGAAAAAAGAGAGAAAAG
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 1417 UTR 3 NP_001007028.1
NM_024079.4 1417 Missense Mutation AAA,AGA K451R NP_076984.2
XM_005274247.3 1417 Missense Mutation AAA,AGA K442R XP_005274304.1
XM_011545252.2 1417 Missense Mutation AAA,AGA K363R XP_011543554.1
XM_017018274.1 1417 UTR 3 XP_016873763.1

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