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TCTGTCATGCTCATCTTCTCTACTA[C/T]TGACCAGAACCAACGCTTGAACTGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608413 | ||||||||||||||||||||
Literature Links: |
UBR5 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 |
UBR5 - ubiquitin protein ligase E3 component n-recognin 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001282873.1 | 8577 | Missense Mutation | ATA,GTA | I,V 2716 | NP_001269802.1 | |
NM_015902.5 | 8577 | Missense Mutation | ATA,GTA | I,V 2717 | NP_056986.2 | |
XM_005250962.4 | 8577 | Missense Mutation | ATA,GTA | I,V 1729 | XP_005251019.1 | |
XM_011517104.2 | 8577 | Missense Mutation | ATA,GTA | I,V 2704 | XP_011515406.2 | |
XM_011517105.2 | 8577 | Missense Mutation | ATA,GTA | I,V 2703 | XP_011515407.2 | |
XM_011517106.2 | 8577 | Missense Mutation | ATA,GTA | I,V 2698 | XP_011515408.2 | |
XM_017013533.1 | 8577 | Missense Mutation | ATA,GTA | I,V 2702 | XP_016869022.1 | |
XM_017013534.1 | 8577 | Missense Mutation | ATA,GTA | I,V 2701 | XP_016869023.1 |
UBR5-AS1 - UBR5 antisense RNA 1 | ||||||
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There are no transcripts associated with this gene. |