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CTGTAGGGCTTGGCTGAAGAGATCA[C/T]TGGTGATGGGCGTCCCTGACTGGAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609748 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
UBL7 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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UBL7 - ubiquitin like 7 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286739.1 | 1054 | Missense Mutation | AAT,AGT | N,S 315 | NP_001273668.1 | |
NM_001286740.1 | 1054 | Missense Mutation | AAT,AGT | N,S 315 | NP_001273669.1 | |
NM_001286741.1 | 1054 | Missense Mutation | AAT,AGT | N,S 355 | NP_001273670.1 | |
NM_001286742.1 | 1054 | Missense Mutation | AAT,AGT | N,S 355 | NP_001273671.1 | |
NM_032907.4 | 1054 | Missense Mutation | AAT,AGT | N,S 315 | NP_116296.1 | |
NM_201265.1 | 1054 | Missense Mutation | AAT,AGT | N,S 315 | NP_957717.1 | |
XM_011522124.2 | 1054 | Missense Mutation | AAT,AGT | N,S 355 | XP_011520426.1 |