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CTCAAATTAGAAGAAAAAGATAATA[A/G]AGAATTGTTCTATTTTCTTACCCCT
Species: |
Human | |||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600358 | |||||||||||||||||||||||||||||
Literature Links: |
GMPS 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
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CEPH (CEU) - Not Available | ||||||
EAS - Not Available | African American
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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 |
GMPS - guanine monophosphate synthase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003875.2 | Intron | NP_003866.1 | ||||
XM_011513263.2 | Intron | XP_011511565.1 | ||||
XM_017007422.1 | Intron | XP_016862911.1 |
Set Membership: |
Validated |