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CCAGGCCATGAACTTTGAGGAGCTG[A/G]ACTTCTTTTTCCAAAAGGCCATTGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
3 submissions
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Phenotype: |
MIM: 602862 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
UAP1 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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UAP1 - UDP-N-acetylglucosamine pyrophosphorylase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001324113.1 | 416 | Missense Mutation | AAC,GAC | N,D 46 | NP_001311042.1 | |
NM_001324114.1 | 416 | Missense Mutation | AAC,GAC | N,D 46 | NP_001311043.1 | |
NM_001324115.1 | 416 | Missense Mutation | AAC,GAC | N,D 46 | NP_001311044.1 | |
NM_001324116.1 | 416 | Missense Mutation | AAC,GAC | N,D 46 | NP_001311045.1 | |
NM_001324117.1 | 416 | Missense Mutation | AAC,GAC | N,D 46 | NP_001311046.1 | |
NM_003115.4 | 416 | Missense Mutation | AAC,GAC | N,D 46 | NP_003106.3 | |
XM_011509913.2 | 416 | Missense Mutation | AAC,GAC | N,D 46 | XP_011508215.1 | |
XM_011509914.2 | 416 | Missense Mutation | AAC,GAC | N,D 46 | XP_011508216.1 |