Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608210 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
EXT2 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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EXT2 - exostosin glycosyltransferase 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000401.3 | 291 | Silent Mutation | AGG,CGG | R,R 43 | NP_000392.3 | |
NM_001178083.1 | 291 | Silent Mutation | AGG,CGG | R,R 10 | NP_001171554.1 | |
NM_207122.1 | 291 | Silent Mutation | AGG,CGG | R,R 10 | NP_997005.1 | |
XM_011519950.1 | 291 | Silent Mutation | AGG,CGG | R,R 56 | XP_011518252.1 | |
XM_011519951.1 | 291 | Missense Mutation | AGG,CGG | R,R 23 | XP_011518253.1 |