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CTGCAGCCCCGAACACCCCGCCCAC[C/T]TCGCAGTCCCCTACGCCGTCCGCTC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614587 | ||||||||||||||||||||
Literature Links: |
CHAC1 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 |
CHAC1 - ChaC glutathione specific gamma-glutamylcyclotransferase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001142776.1 | 185 | Silent Mutation | ACC,ACT | T,T 55 | NP_001136248.1 | |
NM_024111.3 | 185 | Silent Mutation | ACC,ACT | T,T 55 | NP_077016.2 | |
XM_017022563.1 | 185 | Silent Mutation | ACC,ACT | T,T 55 | XP_016878052.1 | |
XM_017022564.1 | 185 | Silent Mutation | ACC,ACT | T,T 55 | XP_016878053.1 | |
XM_017022565.1 | 185 | Silent Mutation | ACC,ACT | T,T 55 | XP_016878054.1 |