Product Details

SNP ID
rs11248061
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:987108 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCATGCGTCCCCTGCGCCCCCGCGC[C/A]GCGCTGCTGGCGCTCCTGGCCTCGC
Phenotype
MIM: 252800 MIM: 610130
Polymorphism
C/A, Transversion 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_000203.4 112 Silent Mutation GCA,GCC A8A NP_000194.2
XM_011513461.2 112 Intron XP_011511763.1
XM_017008163.1 112 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_022042.3 112 Intron NP_071325.2
NM_134425.2 112 Intron NP_602297.1
NM_213613.3 112 Intron NP_998778.1

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