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AGCCTCGTGAATTGTCCCACAGCTT[C/T]GGAAATGTGTGGACACCTACAAGTA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
6 submissions
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Phenotype: |
MIM: 616846 | ||||||||||||||||||||
Literature Links: |
EMC1 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 |
EMC1 - ER membrane protein complex subunit 1 | ||||||
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There are no transcripts associated with this gene. |
MRTO4 - MRT4 homolog, ribosome maturation factor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_016183.3 | 346 | Missense Mutation | CGG,TGG | R,W 31 | NP_057267.2 | |
XM_006710675.3 | 346 | UTR 5 | XP_006710738.1 |