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TATTTACAGCTCGAATAAGAGACTC[A/G]CCAGTGATTGAACACAAACTCATTG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
1 submissions
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Phenotype: |
MIM: 603018 MIM: 607393 | ||||||||||||||||||||
Literature Links: |
B3GALT2 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 |
B3GALT2 - beta-1,3-galactosyltransferase 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003783.3 | 1817 | Nonsense Mutation | CGA,TGA | R,* 368 | NP_003774.1 |
CDC73 - cell division cycle 73 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_024529.4 | 1817 | Intron | NP_078805.3 | |||
XM_006711537.3 | 1817 | Intron | XP_006711600.1 |