Product Details

SNP ID
rs148454524
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:80221694 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGCGTGGCTGCCCAGCTACTCCC[G/T]GCAGTGGCTGAAGATGGATTTCGTC
Phenotype
MIM: 605270 MIM: 610117
Polymorphism
G/T, 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_001166347.1 443 Missense Mutation CGG,CTG R45L NP_001159819.1
NM_001166348.1 443 Missense Mutation CGG,CTG R45L NP_001159820.1
NM_001166349.1 443 Missense Mutation CGG,CTG R45L NP_001159821.1
NM_173626.3 443 Missense Mutation CGG,CTG R45L NP_775897.3
XM_006721833.1 443 Missense Mutation CGG,CTG R45L XP_006721896.1
XM_011524652.1 443 UTR 5 XP_011522954.1
XM_011524653.1 443 UTR 5 XP_011522955.1
XM_011524654.1 443 UTR 5 XP_011522956.1
XM_017024505.1 443 Missense Mutation CGG,CTG R111L XP_016879994.1
XM_017024506.1 443 Missense Mutation CGG,CTG R111L XP_016879995.1
XM_017024507.1 443 Missense Mutation CGG,CTG R45L XP_016879996.1

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