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AAGAGTCCCTGAAGGCTAACCAAAT[A/G]TCTCTCCAGATGTTCTAGTCCAAAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300127 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
OPHN1 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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OPHN1 - oligophrenin 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_002547.2 | Intron | NP_002538.1 | ||||
XM_005262270.1 | Intron | XP_005262327.1 | ||||
XM_006724653.2 | Intron | XP_006724716.1 | ||||
XM_011530961.1 | Intron | XP_011529263.1 | ||||
XM_017029555.1 | Intron | XP_016885044.1 |