Search Thermo Fisher Scientific
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AAATTCATCAGGATTGAAGCCAACC[G/C]ACACAGTATACCTATAGTCTATGGT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300823 | ||||||||||||||||||||
Literature Links: |
IDS PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
IDS - iduronate 2-sulfatase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000202.7 | 1678 | Missense Mutation | TCG,TGG | S,W 502 | NP_000193.1 | |
NM_001166550.3 | 1678 | Missense Mutation | TCG,TGG | S,W 412 | NP_001160022.1 | |
NM_006123.4 | 1678 | Intron | NP_006114.1 |