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TGCCATTGGCCTTGTCCGCCAGGAT[A/G]GCCATGTGGCAGCCCCTAGTAAACT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606074 MIM: 601619 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GBGT1 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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GBGT1 - globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001282629.1 | 1195 | Missense Mutation | CCA,CTA | P,L 276 | NP_001269558.1 | |
NM_001282632.1 | 1195 | Silent Mutation | GCC,GCT | A,A 265 | NP_001269561.1 | |
NM_001288572.1 | 1195 | Silent Mutation | GCC,GCT | A,A 235 | NP_001275501.1 | |
NM_001288573.1 | 1195 | Silent Mutation | GCC,GCT | A,A 146 | NP_001275502.1 | |
NM_021996.5 | 1195 | Silent Mutation | GCC,GCT | A,A 282 | NP_068836.2 |
RALGDS - ral guanine nucleotide dissociation stimulator | ||||||
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There are no transcripts associated with this gene. |