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TTTAACAAAAAATACTTTAGGTTTT[T/C]AATGATAGCAAACGTAGTGGGGCGT
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 |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
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 | 693 | Missense Mutation | AAA,GAA | K,E 152 | NP_001011551.1 | |
NM_152692.4 | 693 | Missense Mutation | AAA,GAA | K,E 152 | NP_689905.1 |
MCTS1 - MCTS1, re-initiation and release factor | ||||||
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There are no transcripts associated with this gene. |