Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TCATATTTTCTTTAGACATCATTAG[A/G]CGCCGAAGCTCTTGCAGGACAACTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602995 | ||||||||||||||||||||
Literature Links: |
TMEM189-UBE2V1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
TMEM189-UBE2V1 - TMEM189-UBE2V1 readthrough | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_199203.2 | 754 | Silent Mutation | CGC,CGT | R,R 349 | NP_954673.1 |
UBE2V1 - ubiquitin conjugating enzyme E2 V1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001032288.2 | 754 | Silent Mutation | CGC,CGT | R,R 126 | NP_001027459.1 | |
NM_001257393.1 | 754 | Silent Mutation | CGC,CGT | R,R 149 | NP_001244322.1 | |
NM_001257394.1 | 754 | Silent Mutation | CGC,CGT | R,R 82 | NP_001244323.1 | |
NM_001257395.1 | 754 | Silent Mutation | CGC,CGT | R,R 123 | NP_001244324.1 | |
NM_001257396.1 | 754 | Silent Mutation | CGC,CGT | R,R 84 | NP_001244325.1 | |
NM_001257397.1 | 754 | Silent Mutation | CGC,CGT | R,R 84 | NP_001244326.1 | |
NM_001257398.1 | 754 | Silent Mutation | CGC,CGT | R,R 84 | NP_001244327.1 | |
NM_001257399.1 | 754 | Silent Mutation | CGC,CGT | R,R 84 | NP_001244328.1 | |
NM_001282575.2 | 754 | Silent Mutation | CGC,CGT | R,R 70 | NP_001269504.1 | |
NM_001282576.1 | 754 | Silent Mutation | CGC,CGT | R,R 84 | NP_001269505.1 | |
NM_001282577.2 | 754 | Silent Mutation | CGC,CGT | R,R 70 | NP_001269506.1 | |
NM_001282578.2 | 754 | Silent Mutation | CGC,CGT | R,R 70 | NP_001269507.1 | |
NM_001282579.1 | 754 | Silent Mutation | CGC,CGT | R,R 84 | NP_001269508.1 | |
NM_001282580.1 | 754 | Intron | NP_001269509.1 | |||
NM_021988.5 | 754 | Silent Mutation | CGC,CGT | R,R 149 | NP_068823.2 | |
NM_022442.5 | 754 | Silent Mutation | CGC,CGT | R,R 82 | NP_071887.1 | |
NM_199144.2 | 754 | Silent Mutation | CGC,CGT | R,R 149 | NP_954595.1 |