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GGCCTCTGGGTCTGGTTCTGGCCAC[A/G]GTCTTGGAGTCCCCTCTGCACCTCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 137168 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GGT5 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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GGT5 - gamma-glutamyltransferase 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001099781.2 | 2052 | Missense Mutation | CGT,TGT | R,C 548 | NP_001093251.1 | |
NM_001099782.2 | 2052 | Missense Mutation | CGT,TGT | R,C 515 | NP_001093252.1 | |
NM_001302464.1 | 2052 | UTR 3 | NP_001289393.1 | |||
NM_001302465.1 | 2052 | Missense Mutation | CGT,TGT | R,C 471 | NP_001289394.1 | |
NM_004121.3 | 2052 | Missense Mutation | CGT,TGT | R,C 547 | NP_004112.2 | |
XM_005261557.2 | 2052 | Missense Mutation | CGT,TGT | R,C 579 | XP_005261614.1 | |
XM_005261558.2 | 2052 | Missense Mutation | CGT,TGT | R,C 578 | XP_005261615.1 | |
XM_011530133.1 | 2052 | Missense Mutation | CGT,TGT | R,C 584 | XP_011528435.1 | |
XM_011530134.1 | 2052 | Missense Mutation | CGT,TGT | R,C 553 | XP_011528436.1 | |
XM_011530135.1 | 2052 | Missense Mutation | CGT,TGT | R,C 552 | XP_011528437.1 | |
XM_011530136.1 | 2052 | UTR 3 | XP_011528438.1 | |||
XM_011530137.2 | 2052 | UTR 3 | XP_011528439.1 | |||
XM_017028768.1 | 2052 | Missense Mutation | CGT,TGT | R,C 546 | XP_016884257.1 | |
XM_017028769.1 | 2052 | Missense Mutation | CGT,TGT | R,C 521 | XP_016884258.1 |