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ACCTTTGTCCCTCACCTGTGTCTTA[C/T]TGTAGACAGAACCAGTCATATCAGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612506 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
UBAP2 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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UBAP2 - ubiquitin associated protein 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001282529.1 | 3175 | Missense Mutation | AAT,AGT | N,S 754 | NP_001269458.1 | |
NM_001282530.1 | 3175 | Missense Mutation | AAT,AGT | N,S 260 | NP_001269459.1 | |
NM_018449.3 | 3175 | Missense Mutation | AAT,AGT | N,S 1021 | NP_060919.3 |
UBE2R2 - ubiquitin conjugating enzyme E2 R2 | ||||||
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There are no transcripts associated with this gene. |