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TATCAACCTACAGAGGACGAAGGTG[C/T]GGTACAACCCCTCCTTGAAGGGGCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
30 submissions
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Phenotype: |
MIM: 114780 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CA6 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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CA6 - carbonic anhydrase 6 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001215.3 | 273 | Missense Mutation | CGG,TGG | R,W 58 | NP_001206.2 | |
NM_001270500.1 | 273 | Missense Mutation | CGG,TGG | R,W 58 | NP_001257429.1 | |
NM_001270501.1 | 273 | Intron | NP_001257430.1 | |||
NM_001270502.1 | 273 | Intron | NP_001257431.1 | |||
XM_011542083.2 | 273 | Missense Mutation | CGG,TGG | R,W 62 | XP_011540385.1 | |
XM_011542084.2 | 273 | Missense Mutation | CGG,TGG | R,W 62 | XP_011540386.1 |