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GCAAGCACTGAGGACTGACTGGGAC[A/G]CCCAGATGTTCTCTGTCAGGTACTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
IQUB 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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IQUB - IQ motif and ubiquitin domain containing | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001282855.1 | 2634 | Missense Mutation | GCG,GTG | A,V 682 | NP_001269784.1 | |
NM_001321293.1 | 2634 | Missense Mutation | GCG,GTG | A,V 682 | NP_001308222.1 | |
NM_178827.4 | 2634 | Missense Mutation | GCG,GTG | A,V 682 | NP_849149.3 | |
XM_005250161.3 | 2634 | Missense Mutation | GCG,GTG | A,V 682 | XP_005250218.1 | |
XM_005250162.4 | 2634 | Missense Mutation | GCG,GTG | A,V 682 | XP_005250219.1 | |
XM_011515833.2 | 2634 | Missense Mutation | GCG,GTG | A,V 682 | XP_011514135.1 | |
XM_011515834.2 | 2634 | Missense Mutation | GCG,GTG | A,V 682 | XP_011514136.1 | |
XM_017011771.1 | 2634 | Missense Mutation | GCG,GTG | A,V 682 | XP_016867260.1 | |
XM_017011772.1 | 2634 | Missense Mutation | GCG,GTG | A,V 403 | XP_016867261.1 |