Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTGCTCACCTCCTCAAACAGCTCCC[A/G]GCTGTAGGTGTTGTCATCGTCAGCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606374 MIM: 104160 MIM: 180721 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
B3GAT3 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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B3GAT3 - beta-1,3-glucuronyltransferase 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001288721.1 | 829 | Missense Mutation | CGG,TGG | R,W 194 | NP_001275650.1 | |
NM_001288722.1 | 829 | Missense Mutation | CGG,TGG | R,W 201 | NP_001275651.1 | |
NM_001288723.1 | 829 | Missense Mutation | CGG,TGG | R,W 201 | NP_001275652.1 | |
NM_012200.3 | 829 | Missense Mutation | CGG,TGG | R,W 201 | NP_036332.2 |
EML3 - echinoderm microtubule associated protein like 3 | ||||||
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There are no transcripts associated with this gene. |
GANAB - glucosidase II alpha subunit | ||||||
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There are no transcripts associated with this gene. |
ROM1 - retinal outer segment membrane protein 1 | ||||||
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There are no transcripts associated with this gene. |