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AGATGGCGTCGGAGCTAGAGCCAGA[G/T]GTGCAGGCCATCGACCGGAGCTTGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609134 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
UBR2 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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UBR2 - ubiquitin protein ligase E3 component n-recognin 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001184801.1 | 322 | Missense Mutation | GAG,GAT | E,D 8 | NP_001171730.1 | |
NM_015255.2 | 322 | Missense Mutation | GAG,GAT | E,D 8 | NP_056070.1 | |
XM_005248965.4 | 322 | Missense Mutation | GAG,GAT | E,D 8 | XP_005249022.1 | |
XM_005248966.3 | 322 | Intron | XP_005249023.1 | |||
XM_011514438.2 | 322 | UTR 5 | XP_011512740.2 | |||
XM_011514439.1 | 322 | Intron | XP_011512741.1 | |||
XM_011514440.1 | 322 | Intron | XP_011512742.1 | |||
XM_011514441.2 | 322 | Intron | XP_011512743.1 | |||
XM_017010594.1 | 322 | UTR 5 | XP_016866083.1 | |||
XM_017010595.1 | 322 | UTR 5 | XP_016866084.1 | |||
XM_017010596.1 | 322 | Missense Mutation | GAG,GAT | E,D 8 | XP_016866085.1 | |
XM_017010597.1 | 322 | UTR 5 | XP_016866086.1 |