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TAGGTCTCCTCTGGGACTTGGATCC[A/G]GCCACTAACCCCCGTGCTGTCCATT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 103070 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ADCY8 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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ADCY8 - adenylate cyclase 8 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001115.2 | 3770 | Missense Mutation | CGG,TGG | R,W 1129 | NP_001106.1 | |
XM_005250769.3 | 3770 | Missense Mutation | CGG,TGG | R,W 1099 | XP_005250826.1 | |
XM_006716501.3 | 3770 | Missense Mutation | CGG,TGG | R,W 1063 | XP_006716564.1 | |
XM_017013006.1 | 3770 | Missense Mutation | CGG,TGG | R,W 1033 | XP_016868495.1 | |
XM_017013007.1 | 3770 | Intron | XP_016868496.1 |