Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CGCCCCTTTGTTGTCCCCAGCCCCC[C/T]GCTGCCACACAGCCAGGCTGACCAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 252800 MIM: 610130 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
IDUA PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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IDUA - iduronidase, alpha-L- | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000203.4 | 252 | Missense Mutation | CCG,CTG | P,L 55 | NP_000194.2 | |
XM_011513461.2 | 252 | Intron | XP_011511763.1 | |||
XM_017008163.1 | 252 | UTR 5 | XP_016863652.1 |
SLC26A1 - solute carrier family 26 member 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_022042.3 | 252 | UTR 3 | NP_071325.2 | |||
NM_134425.2 | 252 | Intron | NP_602297.1 | |||
NM_213613.3 | 252 | UTR 3 | NP_998778.1 |