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CTCACTGTTCTGCCCTTCAGAGGTT[A/G]GGTTGGGCGGTTGTTGTGCTGCATG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 114800 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CA1 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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CA1 - carbonic anhydrase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001128829.3 | 827 | Nonsense Mutation | CAA,TAA | Q,* 250 | NP_001122301.1 | |
NM_001128830.3 | 827 | Nonsense Mutation | CAA,TAA | Q,* 250 | NP_001122302.1 | |
NM_001128831.3 | 827 | Nonsense Mutation | CAA,TAA | Q,* 250 | NP_001122303.1 | |
NM_001164830.1 | 827 | Nonsense Mutation | CAA,TAA | Q,* 250 | NP_001158302.1 | |
NM_001291967.1 | 827 | Nonsense Mutation | CAA,TAA | Q,* 184 | NP_001278896.1 | |
NM_001291968.1 | 827 | Nonsense Mutation | CAA,TAA | Q,* 137 | NP_001278897.1 | |
NM_001738.4 | 827 | Nonsense Mutation | CAA,TAA | Q,* 250 | NP_001729.1 |