Product Details

SNP ID
rs11969
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:149479743 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATAAATTACATGATAAAGAATATGA[C/T]CAGAACAATGCAAAAAATTCACACC
Phenotype
MIM: 300823
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
IDS PubMed Links

Gene Details

Gene
IDS
Gene Name
iduronate 2-sulfatase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000202.7 4829 UTR 3 NP_000193.1
NM_001166550.3 4829 UTR 3 NP_001160022.1
NM_006123.4 4829 Intron NP_006114.1

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