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CCCTCATAGAAGACCCCAAAGTTGA[C/G]GTACACTTGCACAGAACCGAAGTGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606979 MIM: 602027 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
COG8 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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COG8 - component of oligomeric golgi complex 8 | ||||||
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There are no transcripts associated with this gene. |
NIP7 - NIP7, nucleolar pre-rRNA processing protein | ||||||
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There are no transcripts associated with this gene. |
TERF2 - telomeric repeat binding factor 2 | ||||||
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There are no transcripts associated with this gene. |
TMED6 - transmembrane p24 trafficking protein 6 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_144676.3 | 456 | Missense Mutation | CTC,GTC | L,V 134 | NP_653277.2 |