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Search Thermo Fisher Scientific
CCAAAGTAGTAGAAACTGGATTCCA[A/G]TGATATACCACAGGGAGGGATTTAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 114204 | ||||||||||||||||||||
Literature Links: |
CACNA2D1 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 |
CACNA2D1 - calcium voltage-gated channel auxiliary subunit alpha2delta 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000722.3 | 3693 | Missense Mutation | ACT,ATT | T,I 1073 | NP_000713.2 | |
NM_001302890.1 | 3693 | Intron | NP_001289819.1 | |||
XM_005250570.2 | 3693 | Missense Mutation | ACT,ATT | T,I 1085 | XP_005250627.1 | |
XM_005250572.2 | 3693 | Missense Mutation | ACT,ATT | T,I 1068 | XP_005250629.1 | |
XM_005250573.2 | 3693 | Missense Mutation | ACT,ATT | T,I 1066 | XP_005250630.1 | |
XM_005250574.2 | 3693 | Missense Mutation | ACT,ATT | T,I 1061 | XP_005250631.1 | |
XM_006716118.2 | 3693 | Missense Mutation | ACT,ATT | T,I 1092 | XP_006716181.1 | |
XM_006716119.3 | 3693 | Missense Mutation | ACT,ATT | T,I 1067 | XP_006716182.1 | |
XM_006716120.3 | 3693 | Missense Mutation | ACT,ATT | T,I 1053 | XP_006716183.1 | |
XM_006716121.3 | 3693 | Missense Mutation | ACT,ATT | T,I 562 | XP_006716184.1 | |
XM_011516570.2 | 3693 | Intron | XP_011514872.1 | |||
XM_011516571.2 | 3693 | Missense Mutation | ACT,ATT | T,I 1087 | XP_011514873.1 | |
XM_011516572.2 | 3693 | Missense Mutation | ACT,ATT | T,I 1080 | XP_011514874.1 | |
XM_017012588.1 | 3693 | Missense Mutation | ACT,ATT | T,I 1034 | XP_016868077.1 |