Product Details

SNP ID
rs143511610
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:80223262 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCTTGGCTGGCCAGGGTTCCTGCT[A/G]GACTTCATTTCCTACCCCGTCATTA
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_001166347.1 819 Silent Mutation CTA,CTG L146L NP_001159819.1
NM_001166348.1 819 Silent Mutation CTA,CTG L146L NP_001159820.1
NM_001166349.1 819 Silent Mutation CTA,CTG L146L NP_001159821.1
NM_173626.3 819 Silent Mutation CTA,CTG L146L NP_775897.3
XM_006721833.1 819 Silent Mutation CTA,CTG L170L XP_006721896.1
XM_011524652.1 819 Nonsense Mutation TAG,TGG *53W XP_011522954.1
XM_011524653.1 819 Nonsense Mutation TAG,TGG *29W XP_011522955.1
XM_011524654.1 819 Nonsense Mutation TAG,TGG *29W XP_011522956.1
XM_017024505.1 819 Silent Mutation CTA,CTG L236L XP_016879994.1
XM_017024506.1 819 Silent Mutation CTA,CTG L236L XP_016879995.1
XM_017024507.1 819 Silent Mutation CTA,CTG L170L XP_016879996.1

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