Product Details

SNP ID
rs141472706
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:80222676 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAGTATGGCCTCTACTCTGCCTTC[A/C]TGGGCTGCTTCGTGTATTTCTTCCT
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_001166347.1 565 Missense Mutation ATG,CTG M86L NP_001159819.1
NM_001166348.1 565 Missense Mutation ATG,CTG M86L NP_001159820.1
NM_001166349.1 565 Missense Mutation ATG,CTG M86L NP_001159821.1
NM_173626.3 565 Missense Mutation ATG,CTG M86L NP_775897.3
XM_006721833.1 565 Missense Mutation ATG,CTG M86L XP_006721896.1
XM_011524652.1 565 UTR 5 XP_011522954.1
XM_011524653.1 565 UTR 5 XP_011522955.1
XM_011524654.1 565 UTR 5 XP_011522956.1
XM_017024505.1 565 Missense Mutation ATG,CTG M152L XP_016879994.1
XM_017024506.1 565 Missense Mutation ATG,CTG M152L XP_016879995.1
XM_017024507.1 565 Missense Mutation ATG,CTG M86L XP_016879996.1

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