Product Details

SNP ID
rs143238998
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:2917948 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAGGAGGAGTACCAAGAGATGAAA[A/C]ACAGGCAGCCCACGCCGGCCATGCC
Phenotype
MIM: 300002
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
ARSD PubMed Links

Gene Details

Gene
ARSD
Gene Name
arylsulfatase D
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001669.3 789 Missense Mutation TGT,TTT C240F NP_001660.2
NM_009589.3 789 Missense Mutation TGT,TTT C240F NP_033667.2
XM_005274514.2 789 Missense Mutation TGT,TTT C240F XP_005274571.1
XM_005274515.2 789 Missense Mutation TGT,TTT C240F XP_005274572.1

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