Product Details

SNP ID
rs202220608
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:80222712 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGTGTATTTCTTCCTGGGCACCTCC[C/T]GGGATGTGACTCTGGGCCCCACCGC
Phenotype
MIM: 605270 MIM: 610117
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SGSH PubMed Links

Gene Details

Gene
SGSH
Gene Name
N-sulfoglucosamine sulfohydrolase
There are no transcripts associated with this gene.

Gene
SLC26A11
Gene Name
solute carrier family 26 member 11
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001166347.1 601 Missense Mutation CGG,TGG R98W NP_001159819.1
NM_001166348.1 601 Missense Mutation CGG,TGG R98W NP_001159820.1
NM_001166349.1 601 Missense Mutation CGG,TGG R98W NP_001159821.1
NM_173626.3 601 Missense Mutation CGG,TGG R98W NP_775897.3
XM_006721833.1 601 Missense Mutation CGG,TGG R98W XP_006721896.1
XM_011524652.1 601 UTR 5 XP_011522954.1
XM_011524653.1 601 UTR 5 XP_011522955.1
XM_011524654.1 601 UTR 5 XP_011522956.1
XM_017024505.1 601 Missense Mutation CGG,TGG R164W XP_016879994.1
XM_017024506.1 601 Missense Mutation CGG,TGG R164W XP_016879995.1
XM_017024507.1 601 Missense Mutation CGG,TGG R98W XP_016879996.1

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