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CTGGACCGTCTCCTGGATCATGACC[C/G]TGTGGTTGGAGCTGGGCTCCTCCTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610931 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ZFAT 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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ZFAT - zinc finger and AT-hook domain containing | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001029939.3 | 3869 | Missense Mutation | ACG,AGG | T,R 1163 | NP_001025110.2 | |
NM_001167583.2 | 3869 | Missense Mutation | ACG,AGG | T,R 1163 | NP_001161055.1 | |
NM_001174157.1 | 3869 | Missense Mutation | ACG,AGG | T,R 1113 | NP_001167628.1 | |
NM_001174158.1 | 3869 | Missense Mutation | ACG,AGG | T,R 1077 | NP_001167629.1 | |
NM_001289394.1 | 3869 | Missense Mutation | ACG,AGG | T,R 1163 | NP_001276323.1 | |
NM_020863.3 | 3869 | Missense Mutation | ACG,AGG | T,R 1175 | NP_065914.2 | |
XM_011517203.1 | 3869 | Missense Mutation | ACG,AGG | T,R 1163 | XP_011515505.1 | |
XM_011517204.2 | 3869 | Missense Mutation | ACG,AGG | T,R 1113 | XP_011515506.1 | |
XM_011517206.1 | 3869 | Missense Mutation | CAC,CAG | H,Q 1126 | XP_011515508.1 | |
XM_017013716.1 | 3869 | Intron | XP_016869205.1 |