Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AGGGTGGATGGCACTGTGGGCTCCC[C/T]GATGCTGTACTTCTCCTGCAAGAGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 138760 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
HAGH 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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HAGH - hydroxyacylglutathione hydrolase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001040427.1 | 735 | Missense Mutation | AGG,GGG | R,G 207 | NP_001035517.1 | |
NM_001286249.1 | 735 | Silent Mutation | TCA,TCG | S,S 218 | NP_001273178.1 | |
NM_005326.4 | 735 | Missense Mutation | AGG,GGG | R,G 255 | NP_005317.2 | |
XM_011522469.2 | 735 | Missense Mutation | AGG,GGG | R,G 255 | XP_011520771.1 | |
XM_011522470.2 | 735 | Silent Mutation | TCA,TCG | S,S 218 | XP_011520772.1 | |
XM_017023195.1 | 735 | Missense Mutation | AGG,GGG | R,G 207 | XP_016878684.1 |