Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601011 | ||||||||||||||||||||
Literature Links: |
CACNA1A PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | 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 |
CACNA1A - calcium voltage-gated channel subunit alpha1 A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000068.3 | 7432 | UTR 3 | NP_000059.3 | |||
NM_001127221.1 | 7432 | UTR 3 | NP_001120693.1 | |||
NM_001127222.1 | 7432 | Missense Mutation | CCG,TCG | P,S 2395 | NP_001120694.1 | |
NM_001174080.1 | 7432 | UTR 3 | NP_001167551.1 | |||
NM_023035.2 | 7432 | Missense Mutation | CCG,TCG | P,S 2401 | NP_075461.2 |