Product Details

SNP ID
rs142468357
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:80222767 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGTCCCTCCTGGTCTCCTTCTACA[C/T]CTTCCATGAGCCCGCCTACGCTGTG
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_001166347.1 656 Missense Mutation ACC,ATC T116I NP_001159819.1
NM_001166348.1 656 Missense Mutation ACC,ATC T116I NP_001159820.1
NM_001166349.1 656 Missense Mutation ACC,ATC T116I NP_001159821.1
NM_173626.3 656 Missense Mutation ACC,ATC T116I NP_775897.3
XM_006721833.1 656 Missense Mutation ACC,ATC T116I XP_006721896.1
XM_011524652.1 656 UTR 5 XP_011522954.1
XM_011524653.1 656 UTR 5 XP_011522955.1
XM_011524654.1 656 UTR 5 XP_011522956.1
XM_017024505.1 656 Missense Mutation ACC,ATC T182I XP_016879994.1
XM_017024506.1 656 Missense Mutation ACC,ATC T182I XP_016879995.1
XM_017024507.1 656 Missense Mutation ACC,ATC T116I XP_016879996.1

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