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GCACACATTGACTTCGCCCTCCATG[C/G]CCTGTGTGATAGGAAAGCCAGCATC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612733 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
THOC5 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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THOC5 - THO complex 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001002877.1 | 1993 | Missense Mutation | GCC,GGC | A,G 600 | NP_001002877.1 | |
NM_001002878.1 | 1993 | Missense Mutation | GCC,GGC | A,G 600 | NP_001002878.1 | |
NM_001002879.1 | 1993 | Missense Mutation | GCC,GGC | A,G 600 | NP_001002879.1 | |
NM_003678.4 | 1993 | Missense Mutation | GCC,GGC | A,G 600 | NP_003669.4 | |
XM_005261797.1 | 1993 | Missense Mutation | GCC,GGC | A,G 611 | XP_005261854.1 | |
XM_005261798.1 | 1993 | Missense Mutation | GCC,GGC | A,G 611 | XP_005261855.1 | |
XM_005261799.1 | 1993 | Missense Mutation | GCC,GGC | A,G 611 | XP_005261856.1 | |
XM_005261801.3 | 1993 | Missense Mutation | GCC,GGC | A,G 261 | XP_005261858.1 | |
XM_006724347.1 | 1993 | Missense Mutation | GCC,GGC | A,G 611 | XP_006724410.1 | |
XM_017029027.1 | 1993 | Missense Mutation | GCC,GGC | A,G 611 | XP_016884516.1 |