Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AGGCCGACTGTCCACTTCTGCTTCC[A/G]TGGTCCTGGCCGGCCCTTCACCACG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614828 | ||||||||||||||||||||
Literature Links: |
POMGNT2 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 |
POMGNT2 - protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_032806.5 | 1767 | Missense Mutation | CGG,TGG | R,W 472 | NP_116195.2 | |
XM_005265515.2 | 1767 | Missense Mutation | CGG,TGG | R,W 472 | XP_005265572.1 | |
XM_011534163.2 | 1767 | Missense Mutation | CGG,TGG | R,W 472 | XP_011532465.1 | |
XM_011534164.1 | 1767 | Missense Mutation | CGG,TGG | R,W 472 | XP_011532466.1 | |
XM_017007353.1 | 1767 | Missense Mutation | CGG,TGG | R,W 472 | XP_016862842.1 |