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ACTGATTTAATTCTAAGTCTGGGTG[C/T]TGGAGTGTTTAAACACTCTCTTTTT
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 614789 | |||||||||||||||||||||||
Literature Links: |
EOGT PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
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 |
EOGT - EGF domain specific O-linked N-acetylglucosamine transferase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001278689.1 | 2180 | UTR 3 | NP_001265618.1 | |||
NM_173654.2 | 2180 | UTR 3 | NP_775925.1 | |||
XM_005264743.2 | 2180 | UTR 3 | XP_005264800.1 | |||
XM_011533599.1 | 2180 | UTR 3 | XP_011531901.1 | |||
XM_011533600.1 | 2180 | UTR 3 | XP_011531902.1 | |||
XM_011533602.1 | 2180 | UTR 3 | XP_011531904.1 | |||
XM_011533603.1 | 2180 | UTR 3 | XP_011531905.1 | |||
XM_017006204.1 | 2180 | UTR 3 | XP_016861693.1 | |||
XM_017006205.1 | 2180 | UTR 3 | XP_016861694.1 | |||
XM_017006206.1 | 2180 | UTR 3 | XP_016861695.1 | |||
XM_017006207.1 | 2180 | Intron | XP_016861696.1 | |||
XM_017006208.1 | 2180 | Intron | XP_016861697.1 | |||
XM_017006209.1 | 2180 | UTR 3 | XP_016861698.1 |