Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TCTTTCTGCTGTTTCTTATAAACAC[C/G]GTAAGGCATGATGGCTCTCTTGTGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607103 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ATE1 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
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
|
ATE1 - arginyltransferase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001001976.2 | 1341 | Missense Mutation | CGT,GGT | R,G 483 | NP_001001976.1 | |
NM_001288734.1 | 1341 | Missense Mutation | CGT,GGT | R,G 368 | NP_001275663.1 | |
NM_001288735.1 | 1341 | Missense Mutation | CGT,GGT | R,G 387 | NP_001275664.1 | |
NM_001288736.1 | 1341 | Missense Mutation | CGT,GGT | R,G 476 | NP_001275665.1 | |
NM_007041.3 | 1341 | Missense Mutation | CGT,GGT | R,G 483 | NP_008972.2 | |
XM_005269458.2 | 1341 | Missense Mutation | CGT,GGT | R,G 526 | XP_005269515.1 | |
XM_005269459.3 | 1341 | Missense Mutation | CGT,GGT | R,G 519 | XP_005269516.1 | |
XM_017015597.1 | 1341 | Missense Mutation | CGT,GGT | R,G 449 | XP_016871086.1 | |
XM_017015598.1 | 1341 | Missense Mutation | CGT,GGT | R,G 476 | XP_016871087.1 | |
XM_017015599.1 | 1341 | Missense Mutation | CGT,GGT | R,G 440 | XP_016871088.1 | |
XM_017015600.1 | 1341 | Missense Mutation | CGT,GGT | R,G 411 | XP_016871089.1 | |
XM_017015601.1 | 1341 | Intron | XP_016871090.1 | |||
XM_017015602.1 | 1341 | Missense Mutation | CGT,GGT | R,G 368 | XP_016871091.1 | |
XM_017015603.1 | 1341 | Intron | XP_016871092.1 | |||
XM_017015604.1 | 1341 | Missense Mutation | CGT,GGT | R,G 325 | XP_016871093.1 |