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TGAAGATGATGAGGACTTTTCGCTC[C/T]CCACCAGGTACTGCAGACAGCAACT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300522 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
IQSEC2 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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IQSEC2 - IQ motif and Sec7 domain 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001111125.2 | 3482 | Silent Mutation | GGA,GGG | G,G 1053 | NP_001104595.1 | |
NM_001243197.1 | 3482 | Intron | NP_001230126.1 | |||
NM_015075.1 | 3482 | Silent Mutation | GGA,GGG | G,G 848 | NP_055890.1 | |
XM_006724579.2 | 3482 | Silent Mutation | GGA,GGG | G,G 1085 | XP_006724642.1 | |
XM_006724580.3 | 3482 | Silent Mutation | GGA,GGG | G,G 848 | XP_006724643.1 | |
XM_006724581.3 | 3482 | Silent Mutation | GGA,GGG | G,G 1085 | XP_006724644.1 | |
XM_006724582.3 | 3482 | Silent Mutation | GGA,GGG | G,G 1085 | XP_006724645.1 | |
XM_006724583.3 | 3482 | Silent Mutation | GGA,GGG | G,G 1085 | XP_006724646.1 | |
XM_006724584.2 | 3482 | Silent Mutation | GGA,GGG | G,G 1085 | XP_006724647.1 | |
XM_011530773.2 | 3482 | Silent Mutation | GGA,GGG | G,G 816 | XP_011529075.1 | |
XM_011530774.2 | 3482 | Silent Mutation | GGA,GGG | G,G 1085 | XP_011529076.1 | |
XM_011530776.1 | 3482 | Silent Mutation | GGA,GGG | G,G 1085 | XP_011529078.1 | |
XM_011530777.1 | 3482 | Silent Mutation | GGA,GGG | G,G 1085 | XP_011529079.1 | |
XM_017029359.1 | 3482 | Silent Mutation | GGA,GGG | G,G 1043 | XP_016884848.1 | |
XM_017029360.1 | 3482 | Silent Mutation | GGA,GGG | G,G 887 | XP_016884849.1 |