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GGCAAGGAGGTTTGAGGATCACCCC[C/T]CGTGGGAAAAGGGGGCTTCAAAGAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603287 MIM: 601801 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PNPO 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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PNPO - pyridoxamine 5'-phosphate oxidase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_018129.3 | 386 | Intron | NP_060599.1 | |||
XM_005257500.3 | 386 | UTR 5 | XP_005257557.1 | |||
XM_011524968.2 | 386 | Intron | XP_011523270.1 | |||
XM_017024813.1 | 386 | Intron | XP_016880302.1 |
SP2 - Sp2 transcription factor | ||||||
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There are no transcripts associated with this gene. |
SP2-AS1 - SP2 antisense RNA 1 | ||||||
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There are no transcripts associated with this gene. |