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TCAAAGTTCCTGTGTCAGACCTTCT[G/T]TTGTCCTATGAAAGTCCCAAAGTAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
4 submissions
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Phenotype: |
MIM: 610194 MIM: 604934 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
B3GALNT2 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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B3GALNT2 - beta-1,3-N-acetylgalactosaminyltransferase 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001277155.2 | 1799 | Intron | NP_001264084.1 | |||
NM_152490.4 | 1799 | UTR 3 | NP_689703.1 | |||
XM_006711749.3 | 1799 | Intron | XP_006711812.1 | |||
XM_017000394.1 | 1799 | UTR 3 | XP_016855883.1 | |||
XM_017000395.1 | 1799 | UTR 3 | XP_016855884.1 |
TBCE - tubulin folding cofactor E | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001079515.2 | 1799 | Silent Mutation | CTG,CTT | L,L 490 | NP_001072983.1 | |
NM_001287801.1 | 1799 | Silent Mutation | CTG,CTT | L,L 541 | NP_001274730.1 | |
NM_001287802.1 | 1799 | Silent Mutation | CTG,CTT | L,L 377 | NP_001274731.1 | |
NM_003193.4 | 1799 | Silent Mutation | CTG,CTT | L,L 490 | NP_003184.1 |