Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GGACCCCAGCGTCTCCCGCACCTCT[C/G]CAGGCAGCTCCCGGTAGTGGTGCTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604033 | ||||||||||||||||||||
Literature Links: |
ERN1 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 |
ERN1 - endoplasmic reticulum to nucleus signaling 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001433.3 | 4112 | Missense Mutation | GCA,GGA | A,G 916 | NP_001424.3 | |
XM_017024347.1 | 4112 | Missense Mutation | GCA,GGA | A,G 953 | XP_016879836.1 | |
XM_017024348.1 | 4112 | Missense Mutation | GCA,GGA | A,G 919 | XP_016879837.1 |