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AATTTGGCAACATGATTACCCACAG[C/T]GGCAGCATCTTTCTTTGCTTTTTCA
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 | |||
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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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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 | 955 | Missense Mutation | ACT,GCT | T,A 350 | NP_001018169.1 | |
NM_001018160.1 | 955 | Missense Mutation | ACT,GCT | T,A 267 | NP_001018170.1 | |
NM_001286500.1 | 955 | Missense Mutation | ACT,GCT | T,A 359 | NP_001273429.1 | |
NM_003905.3 | 955 | Missense Mutation | ACT,GCT | T,A 356 | NP_003896.1 | |
XM_005256215.1 | 955 | Missense Mutation | ACT,GCT | T,A 267 | XP_005256272.1 | |
XM_011523422.2 | 955 | Missense Mutation | ACT,GCT | T,A 267 | XP_011521724.1 |
TERB1 - telomere repeat binding bouquet formation protein 1 | ||||||
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There are no transcripts associated with this gene. |