Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AAGATGAGCGGCAGCAGGACGCGCC[A/G]CAGCGGCACAGTGAGGATGAGGACG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 109270 | ||||||||||||||||||||
Literature Links: |
SLC4A1 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 |
SLC4A1 - solute carrier family 4 member 1 (Diego blood group) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000342.3 | 2757 | Missense Mutation | CGG,TGG | R,W 870 | NP_000333.1 | |
XM_005257593.4 | 2757 | Missense Mutation | CGG,TGG | R,W 805 | XP_005257650.1 | |
XM_011525129.1 | 2757 | Missense Mutation | CGG,TGG | R,W 840 | XP_011523431.1 | |
XM_011525130.1 | 2757 | Intron | XP_011523432.1 |