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AGATGAGAACACACACCACGTCCCG[A/G]GCCCGCAGCCGGGCCTTGCCCTGCA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
3 submissions
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Phenotype: |
MIM: 615291 MIM: 616593 | ||||||||||||||||||||
Literature Links: |
B3GALT6 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 |
B3GALT6 - beta-1,3-galactosyltransferase 6 | ||||||
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There are no transcripts associated with this gene. |
FAM132A - family with sequence similarity 132 member A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001014980.2 | 804 | Silent Mutation | GCC,GCT | A,A 226 | NP_001014980.1 | |
XM_011541435.2 | 804 | Missense Mutation | CCC,CTC | P,L 231 | XP_011539737.1 | |
XM_011541436.2 | 804 | Missense Mutation | CCC,CTC | P,L 225 | XP_011539738.1 | |
XM_011541437.1 | 804 | Missense Mutation | CCC,CTC | P,L 159 | XP_011539739.1 |