Search Thermo Fisher Scientific
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GCCCTGGGAAGGGGCAAGGTTGTGC[C/T]GTTGTGGCATCCTGCACATCTGCAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615129 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GALNT5 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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GALNT5 - polypeptide N-acetylgalactosaminyltransferase 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
XM_017003237.1 | 909 | Missense Mutation | CCG,CTG | P,L 125 | XP_016858726.1 | |
XM_017003238.1 | 909 | Missense Mutation | CCG,CTG | P,L 125 | XP_016858727.1 |