Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCACCCAAGCGGCCCCGACTAGGGG[C/G]AGGAAACAAGATCGGAGGCCGTAGG
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611531 MIM: 611950 MIM: 612093 MIM: 612092 MIM: 610704 MIM: 176883 MIM: 615642 | |||||||||||||||||||||||
Literature Links: |
EMG1 PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global - Not Available | Caucasian - Not Available | CEPH (CEU)
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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 |
EMG1 - EMG1, N1-specific pseudouridine methyltransferase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001320049.1 | 244 | Missense Mutation | GCA,GGA | A,G 34 | NP_001306978.1 | |
NM_006331.7 | 244 | Missense Mutation | GCA,GGA | A,G 34 | NP_006322.4 |
LOC105369635 - uncharacterized LOC105369635 | ||||||
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There are no transcripts associated with this gene. |
LPCAT3 - lysophosphatidylcholine acyltransferase 3 | ||||||
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There are no transcripts associated with this gene. |
MIR141 - microRNA 141 | ||||||
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There are no transcripts associated with this gene. |
MIR200C - microRNA 200c | ||||||
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There are no transcripts associated with this gene. |
PHB2 - prohibitin 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001144831.1 | 244 | Intron | NP_001138303.1 | |||
NM_001267700.1 | 244 | Intron | NP_001254629.1 |
PTPN6 - protein tyrosine phosphatase, non-receptor type 6 | ||||||
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There are no transcripts associated with this gene. |
SCARNA12 - small Cajal body-specific RNA 12 | ||||||
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There are no transcripts associated with this gene. |
Set Membership: |
HapMap |