Product Details

SNP ID
rs147696830
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:80222747 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCTGGGCCCCACCGCCATTATGTC[A/C]CTCCTGGTCTCCTTCTACACCTTCC
Phenotype
MIM: 605270 MIM: 610117
Polymorphism
A/C, Transversion 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_001166347.1 636 Silent Mutation TCA,TCC S109S NP_001159819.1
NM_001166348.1 636 Silent Mutation TCA,TCC S109S NP_001159820.1
NM_001166349.1 636 Silent Mutation TCA,TCC S109S NP_001159821.1
NM_173626.3 636 Silent Mutation TCA,TCC S109S NP_775897.3
XM_006721833.1 636 Silent Mutation TCA,TCC S109S XP_006721896.1
XM_011524652.1 636 UTR 5 XP_011522954.1
XM_011524653.1 636 UTR 5 XP_011522955.1
XM_011524654.1 636 UTR 5 XP_011522956.1
XM_017024505.1 636 Silent Mutation TCA,TCC S175S XP_016879994.1
XM_017024506.1 636 Silent Mutation TCA,TCC S175S XP_016879995.1
XM_017024507.1 636 Silent Mutation TCA,TCC S109S XP_016879996.1

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