Product Details

SNP ID
rs199781652
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:80221693 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGGCGTGGCTGCCCAGCTACTCC[C/T]TGCAGTGGCTGAAGATGGATTTCGT
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_001166347.1 442 Silent Mutation CTG,TTG L45L NP_001159819.1
NM_001166348.1 442 Silent Mutation CTG,TTG L45L NP_001159820.1
NM_001166349.1 442 Silent Mutation CTG,TTG L45L NP_001159821.1
NM_173626.3 442 Silent Mutation CTG,TTG L45L NP_775897.3
XM_006721833.1 442 Silent Mutation CTG,TTG L45L XP_006721896.1
XM_011524652.1 442 UTR 5 XP_011522954.1
XM_011524653.1 442 UTR 5 XP_011522955.1
XM_011524654.1 442 UTR 5 XP_011522956.1
XM_017024505.1 442 Silent Mutation CTG,TTG L111L XP_016879994.1
XM_017024506.1 442 Silent Mutation CTG,TTG L111L XP_016879995.1
XM_017024507.1 442 Silent Mutation CTG,TTG L45L XP_016879996.1

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