Product Details
- SNP ID
-
rs144577972
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.17:80223317 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CTTCACCTCTGCTGCTGCCGTCACC[A/G]TCGGCTTTGGACAGATCAAGGTAGG
- 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 |
874 |
Missense Mutation |
ATC,GTC |
I165V |
NP_001159819.1 |
| NM_001166348.1 |
874 |
Missense Mutation |
ATC,GTC |
I165V |
NP_001159820.1 |
| NM_001166349.1 |
874 |
Missense Mutation |
ATC,GTC |
I165V |
NP_001159821.1 |
| NM_173626.3 |
874 |
Missense Mutation |
ATC,GTC |
I165V |
NP_775897.3 |
| XM_006721833.1 |
874 |
Missense Mutation |
ATC,GTC |
I189V |
XP_006721896.1 |
| XM_011524652.1 |
874 |
Silent Mutation |
CCA,CCG |
P71P |
XP_011522954.1 |
| XM_011524653.1 |
874 |
Silent Mutation |
CCA,CCG |
P47P |
XP_011522955.1 |
| XM_011524654.1 |
874 |
Silent Mutation |
CCA,CCG |
P47P |
XP_011522956.1 |
| XM_017024505.1 |
874 |
Missense Mutation |
ATC,GTC |
I255V |
XP_016879994.1 |
| XM_017024506.1 |
874 |
Missense Mutation |
ATC,GTC |
I255V |
XP_016879995.1 |
| XM_017024507.1 |
874 |
Missense Mutation |
ATC,GTC |
I189V |
XP_016879996.1 |
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