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Search Thermo Fisher Scientific
TTCTCAAAGTTCCTGTGTCAGACCT[C/T]CTGTTGTCCTATGAAAGTCCCAAAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
1 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 |
---|---|---|
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 |
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 | 1796 | Intron | NP_001264084.1 | |||
NM_152490.4 | 1796 | UTR 3 | NP_689703.1 | |||
XM_006711749.3 | 1796 | Intron | XP_006711812.1 | |||
XM_017000394.1 | 1796 | UTR 3 | XP_016855883.1 | |||
XM_017000395.1 | 1796 | 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 | 1796 | Silent Mutation | CTC,CTT | L,L 489 | NP_001072983.1 | |
NM_001287801.1 | 1796 | Silent Mutation | CTC,CTT | L,L 540 | NP_001274730.1 | |
NM_001287802.1 | 1796 | Silent Mutation | CTC,CTT | L,L 376 | NP_001274731.1 | |
NM_003193.4 | 1796 | Silent Mutation | CTC,CTT | L,L 489 | NP_003184.1 |