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CAACGCACACACACTGAATGAAGCT[C/T]AGCTCCTAATGAGAGTCAGGAACTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600225 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GCH1 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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GCH1 - GTP cyclohydrolase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000161.2 | 913 | Silent Mutation | TAA,TGA | *,* 251 | NP_000152.1 | |
NM_001024024.1 | 913 | Silent Mutation | TAA,TGA | *,* 251 | NP_001019195.1 | |
NM_001024070.1 | 913 | Intron | NP_001019241.1 | |||
NM_001024071.1 | 913 | Intron | NP_001019242.1 | |||
XM_017021218.1 | 913 | Silent Mutation | TAA,TGA | *,* 153 | XP_016876707.1 |