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GGCAGAGCCGGGCCACTGAGCCTGC[C/G]AGGACACTGGATCAGGAGCAGGAAG
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 606399 | |||||||||||||||||||||||
Literature Links: |
CACNA2D3 PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
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 |
CACNA2D3 - calcium voltage-gated channel auxiliary subunit alpha2delta 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_018398.2 | 879 | Intron | NP_060868.2 | |||
XM_005265318.2 | 879 | Intron | XP_005265375.1 | |||
XM_011533946.2 | 879 | Intron | XP_011532248.1 | |||
XM_011533947.2 | 879 | Intron | XP_011532249.1 | |||
XM_011533948.2 | 879 | Intron | XP_011532250.1 | |||
XM_011533949.2 | 879 | Intron | XP_011532251.1 | |||
XM_011533950.2 | 879 | Intron | XP_011532252.1 | |||
XM_011533951.2 | 879 | Intron | XP_011532253.1 | |||
XM_011533952.2 | 879 | Intron | XP_011532254.1 | |||
XM_011533953.2 | 879 | Intron | XP_011532255.1 | |||
XM_011533954.2 | 879 | Intron | XP_011532256.1 | |||
XM_011533955.1 | 879 | Intron | XP_011532257.1 | |||
XM_017006850.1 | 879 | Intron | XP_016862339.1 | |||
XM_017006851.1 | 879 | Intron | XP_016862340.1 | |||
XM_017006852.1 | 879 | Intron | XP_016862341.1 | |||
XM_017006853.1 | 879 | Intron | XP_016862342.1 | |||
XM_017006854.1 | 879 | Intron | XP_016862343.1 |
LRTM1 - leucine rich repeats and transmembrane domains 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001304389.1 | 879 | Missense Mutation | TCG,TGG | S,W 166 | NP_001291318.1 | |
NM_020678.3 | 879 | Missense Mutation | TCG,TGG | S,W 242 | NP_065729.1 |