Product Details

SNP ID
rs144562896
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:80221686 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCCCATCCTGGCGTGGCTGCCCAG[C/T]TACTCCCTGCAGTGGCTGAAGATGG
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_001166347.1 435 Silent Mutation AGC,AGT S42S NP_001159819.1
NM_001166348.1 435 Silent Mutation AGC,AGT S42S NP_001159820.1
NM_001166349.1 435 Silent Mutation AGC,AGT S42S NP_001159821.1
NM_173626.3 435 Silent Mutation AGC,AGT S42S NP_775897.3
XM_006721833.1 435 Silent Mutation AGC,AGT S42S XP_006721896.1
XM_011524652.1 435 UTR 5 XP_011522954.1
XM_011524653.1 435 UTR 5 XP_011522955.1
XM_011524654.1 435 UTR 5 XP_011522956.1
XM_017024505.1 435 Silent Mutation AGC,AGT S108S XP_016879994.1
XM_017024506.1 435 Silent Mutation AGC,AGT S108S XP_016879995.1
XM_017024507.1 435 Silent Mutation AGC,AGT S42S XP_016879996.1

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