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CCAGGAGCGAGGCTGAGATCCTCTG[A/T]GCCTCTGGCCAGTCTTCACAGTAGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604886 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
EMC8 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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EMC8 - ER membrane protein complex subunit 8 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001142288.1 | 439 | UTR 3 | NP_001135760.1 | |||
NM_006067.4 | 439 | Silent Mutation | GCA,GCT | A,A 167 | NP_006058.1 | |
XM_011522813.2 | 439 | Intron | XP_011521115.1 | |||
XM_017022867.1 | 439 | Silent Mutation | GCA,GCT | A,A 115 | XP_016878356.1 |