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TACATCAGGAATTTCATGGCAAGGG[C/T]GAGCGCTCGGTGGAGGAGTCTGCTG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613056 | ||||||||||||||||||||
Literature Links: |
C7orf55-LUC7L2 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 |
C7orf55-LUC7L2 - C7orf55-LUC7L2 readthrough | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001244584.2 | 514 | Intron | NP_001231513.1 |
FMC1 - formation of mitochondrial complex V assembly factor 1 homolog | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_197964.4 | 514 | Silent Mutation | GGC,GGT | G,G 87 | NP_932068.2 |
LUC7L2 - LUC7 like 2, pre-mRNA splicing factor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001244585.1 | 514 | Intron | NP_001231514.1 | |||
NM_001270643.1 | 514 | Intron | NP_001257572.1 | |||
NM_016019.4 | 514 | Intron | NP_057103.2 |