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CGTAACATTAAGTACAACACTATTT[A/C]ATTATCTGGATTGTCCATGCTAGAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603385 | ||||||||||||||||||||
Literature Links: |
NAE1 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 |
NAE1 - NEDD8 activating enzyme E1 subunit 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001018159.1 | 1153 | Nonsense Mutation | GAA,TAA | E,* 416 | NP_001018169.1 | |
NM_001018160.1 | 1153 | Nonsense Mutation | GAA,TAA | E,* 333 | NP_001018170.1 | |
NM_001286500.1 | 1153 | Nonsense Mutation | GAA,TAA | E,* 425 | NP_001273429.1 | |
NM_003905.3 | 1153 | Nonsense Mutation | GAA,TAA | E,* 422 | NP_003896.1 | |
XM_005256215.1 | 1153 | Nonsense Mutation | GAA,TAA | E,* 333 | XP_005256272.1 | |
XM_011523422.2 | 1153 | Nonsense Mutation | GAA,TAA | E,* 333 | XP_011521724.1 |
TERB1 - telomere repeat binding bouquet formation protein 1 | ||||||
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There are no transcripts associated with this gene. |