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CTGGCCCTGTCAAGTCCAAGGCTGC[C/T]GTGTTGCCTCCCCAGCTCCCCCAGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 106195 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SLC4A3 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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SLC4A3 - solute carrier family 4 member 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001326559.1 | 1077 | Missense Mutation | CCG,CTG | P,L 226 | NP_001313488.1 | |
NM_005070.3 | 1077 | Intron | NP_005061.2 | |||
NM_201574.2 | 1077 | Missense Mutation | CCG,CTG | P,L 226 | NP_963868.2 | |
XM_005246789.4 | 1077 | Missense Mutation | CCG,CTG | P,L 226 | XP_005246846.1 | |
XM_005246790.4 | 1077 | Intron | XP_005246847.1 | |||
XM_011511665.2 | 1077 | Missense Mutation | CCG,CTG | P,L 173 | XP_011509967.1 | |
XM_011511667.2 | 1077 | Intron | XP_011509969.1 |