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CTGGAGAATACGGGATTAAGTTCTC[C/G]TCTCTGCAAAACACCAGCCGGGACA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
3 submissions
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Phenotype: |
MIM: 616846 MIM: 609890 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
EMC1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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EMC1 - ER membrane protein complex subunit 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001271427.1 | 2726 | Missense Mutation | GAC,GAG | D,E 891 | NP_001258356.1 | |
NM_001271428.1 | 2726 | Missense Mutation | GAC,GAG | D,E 891 | NP_001258357.1 | |
NM_001271429.1 | 2726 | Missense Mutation | GAC,GAG | D,E 870 | NP_001258358.1 | |
NM_015047.2 | 2726 | Missense Mutation | GAC,GAG | D,E 892 | NP_055862.1 | |
XM_005245787.1 | 2726 | Missense Mutation | GAC,GAG | D,E 895 | XP_005245844.1 | |
XM_005245788.1 | 2726 | Missense Mutation | GAC,GAG | D,E 894 | XP_005245845.1 |
LOC101927895 - uncharacterized LOC101927895 | ||||||
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There are no transcripts associated with this gene. |
UBR4 - ubiquitin protein ligase E3 component n-recognin 4 | ||||||
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There are no transcripts associated with this gene. |