Product Details

SNP ID
rs201593403
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:36949997 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGGCACCAGTCAAATATCGAAGT[C/T]GTATAAAAAGTAGGTCTTTACCCAT
Phenotype
MIM: 604565
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ALG5 PubMed Links

Gene Details

Gene
ALG5
Gene Name
ALG5, dolichyl-phosphate beta-glucosyltransferase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142364.1 987 Missense Mutation CAA,CGA Q277R NP_001135836.1
NM_013338.4 987 Missense Mutation CAA,CGA Q307R NP_037470.1
XM_017020552.1 987 Missense Mutation CAA,CGA Q244R XP_016876041.1

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