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CAACTGCATCGTGCTGGCCCTGGAG[C/T]AGCACCTCCCTGATGGGGACAAAAC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601012 | ||||||||||||||||||||
Literature Links: |
CACNA1B 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 |
CACNA1B - calcium voltage-gated channel subunit alpha1 B | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000718.3 | 454 | Missense Mutation | CAG,TAG | Q,* 116 | NP_000709.1 | |
NM_001243812.1 | 454 | Missense Mutation | CAG,TAG | Q,* 116 | NP_001230741.1 | |
XM_011518991.2 | 454 | Missense Mutation | CAG,TAG | Q,* 116 | XP_011517293.1 | |
XM_011518992.2 | 454 | Missense Mutation | CAG,TAG | Q,* 116 | XP_011517294.1 | |
XM_011518993.2 | 454 | Missense Mutation | CAG,TAG | Q,* 116 | XP_011517295.1 | |
XM_011518994.2 | 454 | Missense Mutation | CAG,TAG | Q,* 116 | XP_011517296.1 | |
XM_017015115.1 | 454 | Missense Mutation | CAG,TAG | Q,* 116 | XP_016870604.1 | |
XM_017015116.1 | 454 | Missense Mutation | CAG,TAG | Q,* 116 | XP_016870605.1 | |
XM_017015117.1 | 454 | Missense Mutation | CAG,TAG | Q,* 116 | XP_016870606.1 | |
XM_017015118.1 | 454 | Missense Mutation | CAG,TAG | Q,* 116 | XP_016870607.1 | |
XM_017015119.1 | 454 | Missense Mutation | CAG,TAG | Q,* 116 | XP_016870608.1 | |
XM_017015120.1 | 454 | Missense Mutation | CAG,TAG | Q,* 116 | XP_016870609.1 |
LOC100133077 - uncharacterized LOC100133077 | ||||||
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There are no transcripts associated with this gene. |