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TCAAATATAGCTTCGTGCATTTTTG[C/T]CATTTGCTTACAAATATTCCTGAAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 191760 MIM: 614633 | ||||||||||||||||||||
Literature Links: |
UGP2 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
UGP2 - UDP-glucose pyrophosphorylase 2 | ||||||
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There are no transcripts associated with this gene. |
VPS54 - VPS54, GARP complex subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001005739.1 | 2810 | Missense Mutation | ACA,GCA | T,A 883 | NP_001005739.1 | |
NM_016516.2 | 2810 | Missense Mutation | ACA,GCA | T,A 895 | NP_057600.2 | |
XM_006712029.3 | 2810 | Missense Mutation | ACA,GCA | T,A 859 | XP_006712092.1 | |
XM_017004316.1 | 2810 | Missense Mutation | ACA,GCA | T,A 777 | XP_016859805.1 |