Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AGCCTGGCCAAGTCTAAGTAACAGC[A/G]TTCATCTTCACAGTTGTACCTAAGG
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 - 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 |
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 | 1905 | Missense Mutation | CGC,TGC | R,C 452 | NP_001265618.1 | |
NM_173654.2 | 1905 | Missense Mutation | CGC,TGC | R,C 368 | NP_775925.1 | |
XM_005264743.2 | 1905 | Missense Mutation | CGC,TGC | R,C 452 | XP_005264800.1 | |
XM_011533599.1 | 1905 | Missense Mutation | CGC,TGC | R,C 470 | XP_011531901.1 | |
XM_011533600.1 | 1905 | Missense Mutation | CGC,TGC | R,C 470 | XP_011531902.1 | |
XM_011533602.1 | 1905 | Missense Mutation | CGC,TGC | R,C 470 | XP_011531904.1 | |
XM_011533603.1 | 1905 | Missense Mutation | CGC,TGC | R,C 469 | XP_011531905.1 | |
XM_017006204.1 | 1905 | Missense Mutation | CGC,TGC | R,C 469 | XP_016861693.1 | |
XM_017006205.1 | 1905 | Missense Mutation | CGC,TGC | R,C 452 | XP_016861694.1 | |
XM_017006206.1 | 1905 | Missense Mutation | CGC,TGC | R,C 452 | XP_016861695.1 | |
XM_017006207.1 | 1905 | Intron | XP_016861696.1 | |||
XM_017006208.1 | 1905 | Intron | XP_016861697.1 | |||
XM_017006209.1 | 1905 | Missense Mutation | CGC,TGC | R,C 177 | XP_016861698.1 |