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CGCTCCAGCGAGTAATCGTCCAGGC[G/A]TCGGGCCTTGGGGCCCAGCACGGAG
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 | |||
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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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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 | 6654 | Missense Mutation | CGC,TGC | R,C 2140 | NP_000059.3 | |
NM_001127221.1 | 6654 | Missense Mutation | CGC,TGC | R,C 2135 | NP_001120693.1 | |
NM_001127222.1 | 6654 | Missense Mutation | CGC,TGC | R,C 2134 | NP_001120694.1 | |
NM_001174080.1 | 6654 | Missense Mutation | CGC,TGC | R,C 2137 | NP_001167551.1 | |
NM_023035.2 | 6654 | Missense Mutation | CGC,TGC | R,C 2140 | NP_075461.2 |