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CTTGCCCTGCAGCTCACTGTGGTCT[G/A]CGGAGAGAGCCCTGGGGAGGGTGGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
15 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) - 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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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 | 782 | Intron | NP_001014980.1 | |||
XM_011541435.2 | 782 | Missense Mutation | XP_011539737.1 | |||
XM_011541436.2 | 782 | Intron | XP_011539738.1 | |||
XM_011541437.1 | 782 | Nonsense Mutation | XP_011539739.1 |