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TCTCAGATTCATCAATAAGCTGCAG[C/T]CAGGCTCCGTGAAGAAGATCAATGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600806 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CNN1 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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CNN1 - calponin 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001299.5 | 265 | Missense Mutation | CCA,TCA | P,S 69 | NP_001290.2 | |
NM_001308341.1 | 265 | Missense Mutation | CCA,TCA | P,S 19 | NP_001295270.1 | |
NM_001308342.1 | 265 | Missense Mutation | CCA,TCA | P,S 19 | NP_001295271.1 | |
XM_005259741.2 | 265 | Missense Mutation | CCA,TCA | P,S 19 | XP_005259798.1 | |
XM_017026289.1 | 265 | Missense Mutation | CCA,TCA | P,S 135 | XP_016881778.1 |
ELOF1 - elongation factor 1 homolog | ||||||
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There are no transcripts associated with this gene. |