Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GAGTCTGGCGGGTAGTAGGGCAGGA[A/G]GAGGCTCTCAGAGGCGCAGCTCCTC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604034 MIM: 602098 | ||||||||||||||||||||
Literature Links: |
ERN2 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 |
ERN2 - endoplasmic reticulum to nucleus signaling 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001308220.1 | 2873 | Missense Mutation | CTC,TTC | L,F 854 | NP_001295149.2 | |
NM_033266.3 | 2873 | Missense Mutation | CTC,TTC | L,F 906 | NP_150296.4 | |
XM_011545708.1 | 2873 | Missense Mutation | CTC,TTC | L,F 762 | XP_011544010.1 | |
XM_011545709.1 | 2873 | Missense Mutation | CTC,TTC | L,F 762 | XP_011544011.1 | |
XM_011545711.2 | 2873 | Intron | XP_011544013.1 | |||
XM_011545712.2 | 2873 | Intron | XP_011544014.1 | |||
XM_011545713.1 | 2873 | Intron | XP_011544015.1 |
PLK1 - polo like kinase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005030.5 | 2873 | Intron | NP_005021.2 |