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CCTGTCTGTTTCCTATGATCAAGCA[A/T]CTTCCCTGAGGATCCTCAACAATGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611492 | ||||||||||||||||||||
Literature Links: |
CA2 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 |
CA2 - carbonic anhydrase 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000067.2 | 343 | Missense Mutation | ACT,TCT | T,S 55 | NP_000058.1 | |
NM_001293675.1 | 343 | UTR 5 | NP_001280604.1 |
CA3-AS1 - CA3 antisense RNA 1 | ||||||
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There are no transcripts associated with this gene. |