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TTCTGCCAGCTTGGTTTCTGCTTTC[C/T]GGGAGAGCTGGTGCACCTCTTCCAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605864 MIM: 605219 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
B3GNT4 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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B3GNT4 - UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
XM_011538732.1 | 998 | Intron | XP_011537034.1 |
DIABLO - diablo IAP-binding mitochondrial protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001278302.1 | 998 | Missense Mutation | CAG,CGG | Q,R 105 | NP_001265231.1 | |
NM_001278303.1 | 998 | Missense Mutation | CAG,CGG | Q,R 129 | NP_001265232.1 | |
NM_001278304.1 | 998 | Missense Mutation | CAG,CGG | Q,R 149 | NP_001265233.1 | |
NM_001278342.1 | 998 | Missense Mutation | CAG,CGG | Q,R 158 | NP_001265271.1 | |
NM_019887.5 | 998 | Missense Mutation | CAG,CGG | Q,R 202 | NP_063940.1 | |
NM_138930.3 | 998 | Missense Mutation | CAG,CGG | Q,R 149 | NP_620308.1 |
LRRC43 - leucine rich repeat containing 43 | ||||||
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There are no transcripts associated with this gene. |