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GATCCAACAGGGGAAGCAGCAGCTA[A/C]TACCCAGCAGACACTTACTTTCTAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606976 MIM: 605592 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
COG4 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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COG4 - component of oligomeric golgi complex 4 | ||||||
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There are no transcripts associated with this gene. |
SF3B3 - splicing factor 3b subunit 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_012426.4 | 819 | Missense Mutation | AAT,ACT | N,T 203 | NP_036558.3 |
SNORD111 - small nucleolar RNA, C/D box 111 | ||||||
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There are no transcripts associated with this gene. |
SNORD111B - small nucleolar RNA, C/D box 111B | ||||||
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There are no transcripts associated with this gene. |