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CTTTGGGTTTTACAAGGATAATACA[A/G]TATACTCGAAAGCTCTTACTGAGCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300611 MIM: 300587 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C1GALT1C1 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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C1GALT1C1 - C1GALT1 specific chaperone 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001011551.2 | 449 | Silent Mutation | TAC,TAT | Y,Y 70 | NP_001011551.1 | |
NM_152692.4 | 449 | Silent Mutation | TAC,TAT | Y,Y 70 | NP_689905.1 |
MCTS1 - MCTS1, re-initiation and release factor | ||||||
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There are no transcripts associated with this gene. |