Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TGTGCTGGTCACAGTTTTGCTGTTC[G/A]TTTTCTGTACACCTCGCATTACCAT
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 |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | 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 |
GCH1 - GTP cyclohydrolase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000161.2 | 823 | Missense Mutation | ACG,ATG | T,M 221 | NP_000152.1 | |
NM_001024024.1 | 823 | Missense Mutation | ACG,ATG | T,M 221 | NP_001019195.1 | |
NM_001024070.1 | 823 | Intron | NP_001019241.1 | |||
NM_001024071.1 | 823 | Intron | NP_001019242.1 | |||
XM_017021218.1 | 823 | Missense Mutation | ACG,ATG | T,M 123 | XP_016876707.1 |