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GCTGCAGCAGCCCCTGCACCTGTAG[C/T]GTGAAGACCCTGCTGTTGCTCTCCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
41 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 | ||||||
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Global
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Caucasian - Not Available | CEPH (CEU)
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EAS
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African American - Not Available | YRI (Yoruba)
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SAS
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Chinese - Not Available | JPT (Japanese)
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AFR
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Japanese - Not Available | CHB (Han Chinese)
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EUR
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AMR
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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 | 906 | Silent Mutation | ACA,ACG | T,T 260 | NP_001014980.1 | |
XM_011541435.2 | 906 | Missense Mutation | CAC,CGC | H,R 265 | XP_011539737.1 | |
XM_011541436.2 | 906 | Missense Mutation | CAC,CGC | H,R 259 | XP_011539738.1 | |
XM_011541437.1 | 906 | Missense Mutation | CAC,CGC | H,R 193 | XP_011539739.1 |
Set Membership: |
HapMap |