Product Details

SNP ID
rs190898093
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:80222688 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTACTCTGCCTTCATGGGCTGCTTC[A/G]TGTATTTCTTCCTGGGCACCTCCCG
Phenotype
MIM: 605270 MIM: 610117
Polymorphism
A/G, 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_001166347.1 577 Missense Mutation ATG,GTG M90V NP_001159819.1
NM_001166348.1 577 Missense Mutation ATG,GTG M90V NP_001159820.1
NM_001166349.1 577 Missense Mutation ATG,GTG M90V NP_001159821.1
NM_173626.3 577 Missense Mutation ATG,GTG M90V NP_775897.3
XM_006721833.1 577 Missense Mutation ATG,GTG M90V XP_006721896.1
XM_011524652.1 577 UTR 5 XP_011522954.1
XM_011524653.1 577 UTR 5 XP_011522955.1
XM_011524654.1 577 UTR 5 XP_011522956.1
XM_017024505.1 577 Missense Mutation ATG,GTG M156V XP_016879994.1
XM_017024506.1 577 Missense Mutation ATG,GTG M156V XP_016879995.1
XM_017024507.1 577 Missense Mutation ATG,GTG M90V XP_016879996.1

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