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CATGATGAAGTTTGCATCAGCTGCC[A/G]AGGTGCCCAGGCCCCCTCGAACCAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
59 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)
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EAS
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African American - Not Available | YRI (Yoruba)
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SAS
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Chinese - Not Available | JPT (Japanese)
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AFR
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Japanese - Not Available | CHB (Han Chinese)
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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 | 5626 | Missense Mutation | TCG,TTG | S,L 1800 | NP_000060.2 | |
XM_005245478.3 | 5626 | Missense Mutation | TCG,TTG | S,L 1781 | XP_005245535.1 |
LOC101929305 - uncharacterized LOC101929305 | ||||||
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There are no transcripts associated with this gene. |
Set Membership: |
HapMap |