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CCGAGAGATCTTCATCCCAGCCAGG[C/T]GCACCCTATGGGAAAAGTGAGGGTA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
4 submissions
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Phenotype: |
MIM: 604014 MIM: 600923 MIM: 604729 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
B4GALT3 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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B4GALT3 - beta-1,4-galactosyltransferase 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001199873.1 | 1071 | Missense Mutation | CAC,CGC | H,R 270 | NP_001186802.1 | |
NM_001199874.1 | 1071 | Missense Mutation | CAC,CGC | H,R 270 | NP_001186803.1 | |
NM_003779.3 | 1071 | Missense Mutation | CAC,CGC | H,R 270 | NP_003770.1 | |
XM_005245566.1 | 1071 | Missense Mutation | CAC,CGC | H,R 270 | XP_005245623.1 | |
XM_011510093.1 | 1071 | Missense Mutation | CAC,CGC | H,R 270 | XP_011508395.1 | |
XM_017002714.1 | 1071 | Missense Mutation | CAC,CGC | H,R 270 | XP_016858203.1 | |
XM_017002715.1 | 1071 | Intron | XP_016858204.1 |
USP21 - ubiquitin specific peptidase 21 | ||||||
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There are no transcripts associated with this gene. |