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ACAGCTACAGAAAGATCTAGAAGAG[G/T]TAAAGGTGTTGCTGGAAAAGGCTAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
7 submissions
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Phenotype: |
MIM: 606186 MIM: 611978 MIM: 609238 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CACYBP 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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CACYBP - calcyclin binding protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001007214.1 | 409 | UTR 5 | NP_001007215.1 | |||
NM_014412.2 | 409 | Missense Mutation | GTA,TTA | V,L 13 | NP_055227.1 | |
XM_017001046.1 | 409 | UTR 5 | XP_016856535.1 |
LOC105371622 - uncharacterized LOC105371622 | ||||||
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There are no transcripts associated with this gene. |
MRPS14 - mitochondrial ribosomal protein S14 | ||||||
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There are no transcripts associated with this gene. |
RABGAP1L - RAB GTPase activating protein 1 like | ||||||
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There are no transcripts associated with this gene. |