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CAAGTAGGGAGCCAGAATCTTCCAT[C/T]GTTCACCCAGCTTGTTGGCAAATAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606930 MIM: 607274 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
THOC1 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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THOC1 - THO complex 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005131.2 | 1812 | Missense Mutation | CAA,CGA | Q,R 584 | NP_005122.2 | |
XM_011525772.2 | 1812 | Missense Mutation | CAA,CGA | Q,R 591 | XP_011524074.1 | |
XM_011525773.1 | 1812 | Missense Mutation | CAA,CGA | Q,R 453 | XP_011524075.1 | |
XM_011525774.2 | 1812 | Missense Mutation | CAA,CGA | Q,R 284 | XP_011524076.1 | |
XM_017026103.1 | 1812 | Missense Mutation | CAA,CGA | Q,R 453 | XP_016881592.1 | |
XM_017026104.1 | 1812 | Intron | XP_016881593.1 |
USP14 - ubiquitin specific peptidase 14 | ||||||
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There are no transcripts associated with this gene. |