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GGCGCCACCCAGGAGTCCGTGGTGC[C/T]GGTTGGCCTGCTGGAGCCCTGCGAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
5 submissions
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Phenotype: |
MIM: 616593 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
FAM132A 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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FAM132A - family with sequence similarity 132 member A | ||||||
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There are no transcripts associated with this gene. |
UBE2J2 - ubiquitin conjugating enzyme E2 J2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_058167.2 | 733 | Missense Mutation | CAG,CGG | Q,R 224 | NP_477515.2 | |
NM_194315.1 | 733 | Missense Mutation | CAG,CGG | Q,R 240 | NP_919296.1 | |
NM_194457.1 | 733 | Missense Mutation | CAG,CGG | Q,R 172 | NP_919439.1 | |
NM_194458.1 | 733 | Missense Mutation | CAG,CGG | Q,R 172 | NP_919440.1 | |
XM_005244718.3 | 733 | Missense Mutation | CAG,CGG | Q,R 224 | XP_005244775.1 | |
XM_005244719.4 | 733 | Missense Mutation | CAG,CGG | Q,R 224 | XP_005244776.1 | |
XM_006710333.3 | 733 | Missense Mutation | CAG,CGG | Q,R 224 | XP_006710396.1 | |
XM_011540613.2 | 733 | Missense Mutation | CAG,CGG | Q,R 189 | XP_011538915.1 | |
XM_011540614.2 | 733 | Missense Mutation | CAG,CGG | Q,R 224 | XP_011538916.1 | |
XM_011540616.2 | 733 | Missense Mutation | CAG,CGG | Q,R 172 | XP_011538918.1 | |
XM_011540617.2 | 733 | Missense Mutation | CAG,CGG | Q,R 172 | XP_011538919.1 | |
XM_017000238.1 | 733 | Missense Mutation | CAG,CGG | Q,R 172 | XP_016855727.1 | |
XM_017000239.1 | 733 | Missense Mutation | CAG,CGG | Q,R 172 | XP_016855728.1 |