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CAGTGACAGACAAGGAAGACATACC[A/G]TAAATCCATATCGTGGAATGCTGAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603756 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ABCG2 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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ABCG2 - ATP binding cassette subfamily G member 2 (Junior blood group) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001257386.1 | 2343 | Missense Mutation | CGG,TGG | R,W 576 | NP_001244315.1 | |
NM_004827.2 | 2343 | Missense Mutation | ACG,ATG | T,M 579 | NP_004818.2 | |
XM_005263354.3 | 2343 | Missense Mutation | ACG,ATG | T,M 579 | XP_005263411.1 | |
XM_005263355.3 | 2343 | Missense Mutation | ACG,ATG | T,M 579 | XP_005263412.1 | |
XM_005263356.3 | 2343 | Missense Mutation | ACG,ATG | T,M 577 | XP_005263413.1 | |
XM_011532420.2 | 2343 | Missense Mutation | ACG,ATG | T,M 579 | XP_011530722.1 | |
XM_017008852.1 | 2343 | Missense Mutation | ACG,ATG | T,M 577 | XP_016864341.1 | |
XM_017008853.1 | 2343 | Missense Mutation | ACG,ATG | T,M 579 | XP_016864342.1 |