Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ATGGGCTGCAAGGGAGACGCGAGCG[G/T]TGCGTGTGCCGCGGGTGCGCTGCCG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605897 | ||||||||||||||||||||
Literature Links: |
UGGT1 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 |
UGGT1 - UDP-glucose glycoprotein glucosyltransferase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_020120.3 | 196 | Missense Mutation | GGT,GTT | G,V 9 | NP_064505.1 | |
XM_006712634.3 | 196 | Missense Mutation | GGT,GTT | G,V 9 | XP_006712697.1 | |
XM_006712635.3 | 196 | Missense Mutation | GGT,GTT | G,V 9 | XP_006712698.1 | |
XM_006712636.3 | 196 | Intron | XP_006712699.1 | |||
XM_017004507.1 | 196 | UTR 5 | XP_016859996.1 | |||
XM_017004508.1 | 196 | Intron | XP_016859997.1 | |||
XM_017004509.1 | 196 | Intron | XP_016859998.1 | |||
XM_017004510.1 | 196 | Intron | XP_016859999.1 |