Product Details

SNP ID
rs201345740
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:987948 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGCTGCTGGAGCTTGTCACCACC[A/G]GGTGGGCGGCGGGCAGGGTCTGGGC
Phenotype
MIM: 252800 MIM: 610130
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
IDUA PubMed Links

Gene Details

Gene
IDUA
Gene Name
iduronidase, alpha-L-
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000203.4 386 Missense Mutation AGG,GGG R100G NP_000194.2
XM_011513461.2 386 Intron XP_011511763.1
XM_017008163.1 386 UTR 5 XP_016863652.1
Gene
SLC26A1
Gene Name
solute carrier family 26 member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_022042.3 386 UTR 3 NP_071325.2
NM_134425.2 386 Intron NP_602297.1
NM_213613.3 386 UTR 3 NP_998778.1

View Full Product Details