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CCTCAGGCATGTCGTAGTTAAAGAC[A/G]ATGTTGACTCGCTCGATGTCCATCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601211 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ADGRE5 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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ADGRE5 - adhesion G protein-coupled receptor E5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001025160.2 | 1189 | Intron | NP_001020331.1 | |||
NM_001784.4 | 1189 | Intron | NP_001775.2 | |||
NM_078481.3 | 1189 | Intron | NP_510966.1 | |||
XM_011528451.2 | 1189 | Intron | XP_011526753.1 | |||
XM_017027547.1 | 1189 | Intron | XP_016883036.1 |
DDX39A - DEAD-box helicase 39A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005804.3 | 1189 | Silent Mutation | ATC,ATT | I,I 357 | NP_005795.2 | |
XM_006722606.3 | 1189 | Silent Mutation | ATC,ATT | I,I 152 | XP_006722669.1 | |
XM_011527620.1 | 1189 | Silent Mutation | ATC,ATT | I,I 357 | XP_011525922.1 | |
XM_011527621.2 | 1189 | Silent Mutation | ATC,ATT | I,I 152 | XP_011525923.1 |