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GATGGCAGAAGAGCACACAGATCTC[A/G]AGGCCCAGATCGTCAAGGATATCCA
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 601253 | |||||||||||||||||||||||
Literature Links: |
CAV3 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 - Not Available | African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR - Not Available | |||||
AMR - Not Available |
CAV3 - caveolin 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001234.4 | 105 | Missense Mutation | AAG,GAG | K,E 10 | NP_001225.1 | |
NM_033337.2 | 105 | Missense Mutation | AAG,GAG | K,E 10 | NP_203123.1 |