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AGAAGCAGGGGCCCCCCATCAGGCC[C/T]TGTGACTGCCGTTGGCTACAGGCTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605453 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ABCB9 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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ABCB9 - ATP binding cassette subfamily B member 9 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001243013.1 | 2604 | Missense Mutation | AAG,AGG | K,R 702 | NP_001229942.1 | |
NM_001243014.1 | 2604 | Intron | NP_001229943.1 | |||
NM_019624.3 | 2604 | Missense Mutation | AAG,AGG | K,R 722 | NP_062570.1 | |
NM_019625.3 | 2604 | Missense Mutation | AAG,AGG | K,R 765 | NP_062571.1 | |
NM_203444.3 | 2604 | Intron | NP_982269.2 | |||
XM_005253558.2 | 2604 | Missense Mutation | AAG,AGG | K,R 547 | XP_005253615.1 | |
XM_011538095.2 | 2604 | Missense Mutation | AAG,AGG | K,R 765 | XP_011536397.1 | |
XM_011538096.2 | 2604 | Missense Mutation | AAG,AGG | K,R 765 | XP_011536398.1 | |
XM_011538098.2 | 2604 | Missense Mutation | AAG,AGG | K,R 547 | XP_011536400.1 | |
XM_011538099.2 | 2604 | Intron | XP_011536401.1 | |||
XM_017019103.1 | 2604 | Missense Mutation | AAG,AGG | K,R 765 | XP_016874592.1 | |
XM_017019104.1 | 2604 | Missense Mutation | AAG,AGG | K,R 484 | XP_016874593.1 |