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GACCCTGCAGGGTTGGCCAAGGGCT[C/T]GTCCTCTGGTAGCAGGCGTCTCTGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
8 submissions
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Phenotype: |
MIM: 114208 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CACNA1S 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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CACNA1S - calcium voltage-gated channel subunit alpha1 S | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000069.2 | 5332 | Missense Mutation | NP_000060.2 | |||
XM_005245478.3 | 5332 | Missense Mutation | XP_005245535.1 |
LOC101929305 - uncharacterized LOC101929305 | ||||||
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There are no transcripts associated with this gene. |