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ACACCTTCACCACATGGAACCGGAA[G/T]CTGTAGACACCCCGGACAGGGGCTA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612978 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CBLN3 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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CBLN3 - cerebellin 3 precursor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001039771.2 | 846 | Missense Mutation | AGA,AGC | R,S 125 | NP_001034860.1 |
KHNYN - KH and NYN domain containing | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001290256.1 | 846 | Intron | NP_001277185.1 | |||
NM_001290257.1 | 846 | Intron | NP_001277186.1 | |||
NM_015299.2 | 846 | Intron | NP_056114.1 | |||
XM_005267474.4 | 846 | Intron | XP_005267531.1 | |||
XM_011536590.2 | 846 | Intron | XP_011534892.1 | |||
XM_017021114.1 | 846 | Intron | XP_016876603.1 |
NYNRIN - NYN domain and retroviral integrase containing | ||||||
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There are no transcripts associated with this gene. |