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AACTCCCAGTGCTCACCGTGGTAGA[C/T]ATCTTAGATTCCGGCTTTGCAGCTC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607267 | ||||||||||||||||||||
Literature Links: |
C9orf43 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 |
C9orf43 - chromosome 9 open reading frame 43 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001278629.1 | 587 | Silent Mutation | GAC,GAT | D,D 60 | NP_001265558.1 | |
NM_001278630.1 | 587 | Silent Mutation | GAC,GAT | D,D 78 | NP_001265559.1 | |
NM_152786.2 | 587 | Silent Mutation | GAC,GAT | D,D 60 | NP_689999.1 | |
XM_005251885.3 | 587 | Intron | XP_005251942.1 | |||
XM_011518477.1 | 587 | Silent Mutation | GAC,GAT | D,D 60 | XP_011516779.1 | |
XM_011518478.1 | 587 | Silent Mutation | GAC,GAT | D,D 60 | XP_011516780.1 | |
XM_011518479.2 | 587 | Intron | XP_011516781.1 |
POLE3 - DNA polymerase epsilon 3, accessory subunit | ||||||
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There are no transcripts associated with this gene. |