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TCAGAGGAGGAGCGGCTGAAGTTGG[C/T]TCAGCAGCAGGCGGCATTGCTGATG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608234 MIM: 605591 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GAL3ST3 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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GAL3ST3 - galactose-3-O-sulfotransferase 3 | ||||||
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There are no transcripts associated with this gene. |
SF3B2 - splicing factor 3b subunit 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_006842.2 | 1062 | Missense Mutation | GCT,GTT | A,V 150 | NP_006833.2 | |
XM_005273726.3 | 1062 | Missense Mutation | GCT,GTT | A,V 150 | XP_005273783.1 | |
XM_011544740.2 | 1062 | Missense Mutation | GCT,GTT | A,V 150 | XP_011543042.1 | |
XM_017017144.1 | 1062 | Missense Mutation | GCT,GTT | A,V 150 | XP_016872633.1 |