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Search Thermo Fisher Scientific
AGCGCGGCATCACGCTCGATCTGGG[C/T]TTCTCGTGCTTCTCGGTGCCGCTGC
Species: |
Human | |||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607695 MIM: 603449 | |||||||||||||||||||||||||||||
Literature Links: |
EEFSEC PubMed Links | |||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | ||||||
---|---|---|---|---|---|---|---|---|
Global
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Caucasian
|
CEPH (CEU) - Not Available | ||||||
EAS - Not Available | African American
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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 |
EEFSEC - eukaryotic elongation factor, selenocysteine-tRNA specific | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_021937.4 | 252 | Silent Mutation | GGC,GGT | G,G 52 | NP_068756.2 | |
XM_005247696.2 | 252 | Silent Mutation | GGC,GGT | G,G 52 | XP_005247753.1 | |
XM_011513066.2 | 252 | Intron | XP_011511368.1 | |||
XM_017006975.1 | 252 | Silent Mutation | GGC,GGT | G,G 52 | XP_016862464.1 | |
XM_017006976.1 | 252 | Silent Mutation | GGC,GGT | G,G 52 | XP_016862465.1 | |
XM_017006977.1 | 252 | Silent Mutation | GGC,GGT | G,G 52 | XP_016862466.1 | |
XM_017006978.1 | 252 | Intron | XP_016862467.1 | |||
XM_017006979.1 | 252 | Intron | XP_016862468.1 | |||
XM_017006980.1 | 252 | Silent Mutation | GGC,GGT | G,G 52 | XP_016862469.1 | |
XM_017006981.1 | 252 | Intron | XP_016862470.1 |
RUVBL1 - RuvB like AAA ATPase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001319084.1 | 252 | Intron | NP_001306013.1 | |||
NM_001319086.1 | 252 | UTR 5 | NP_001306015.1 | |||
NM_003707.2 | 252 | Intron | NP_003698.1 | |||
XM_005247841.3 | 252 | Intron | XP_005247898.1 | |||
XM_011513248.1 | 252 | Intron | XP_011511550.1 | |||
XM_011513249.2 | 252 | Intron | XP_011511551.1 | |||
XM_017007356.1 | 252 | Intron | XP_016862845.1 | |||
XM_017007357.1 | 252 | Intron | XP_016862846.1 |
Set Membership: |
Validated |