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GAAAAACAGACAGTATCCACTGGAT[G/T]CATTGGAACCCCAACCCAGCATTGG
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613250 MIM: 613822 | |||||||||||||||||||||||
Literature Links: |
EBLN2 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 - 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 |
EBLN2 - endogenous Bornavirus-like nucleoprotein 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_018029.4 | 691 | Missense Mutation | GCA,TCA | A,S 90 | NP_060499.3 |
PPP4R2 - protein phosphatase 4 regulatory subunit 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001318025.1 | 691 | Intron | NP_001304954.1 | |||
NM_001318026.1 | 691 | Intron | NP_001304955.1 | |||
NM_001318027.1 | 691 | Intron | NP_001304956.1 | |||
NM_001318028.1 | 691 | Intron | NP_001304957.1 | |||
NM_174907.3 | 691 | Intron | NP_777567.1 |