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CACGGGTACCTTCTCAAGGCTCTGC[C/T]GATGTCCCACACTGATGAACGTCAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603214 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ABCD4 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
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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ABCD4 - ATP binding cassette subfamily D member 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005050.3 | 1782 | Missense Mutation | CAG,CGG | Q,R 579 | NP_005041.1 | |
XM_005267939.3 | 1782 | Missense Mutation | CAG,CGG | Q,R 441 | XP_005267996.1 | |
XM_005267940.3 | 1782 | Missense Mutation | CAG,CGG | Q,R 441 | XP_005267997.1 | |
XM_005267941.4 | 1782 | Missense Mutation | CAG,CGG | Q,R 441 | XP_005267998.1 | |
XM_005267942.4 | 1782 | Missense Mutation | CAG,CGG | Q,R 441 | XP_005267999.1 | |
XM_005267946.3 | 1782 | Missense Mutation | CAG,CGG | Q,R 420 | XP_005268003.1 | |
XM_005267949.3 | 1782 | Missense Mutation | CAG,CGG | Q,R 420 | XP_005268006.1 | |
XM_006720223.2 | 1782 | Missense Mutation | CAG,CGG | Q,R 492 | XP_006720286.1 | |
XM_011537041.2 | 1782 | Missense Mutation | CAG,CGG | Q,R 488 | XP_011535343.1 | |
XM_017021531.1 | 1782 | UTR 3 | XP_016877020.1 | |||
XM_017021532.1 | 1782 | Missense Mutation | CAG,CGG | Q,R 537 | XP_016877021.1 | |
XM_017021533.1 | 1782 | Missense Mutation | CAG,CGG | Q,R 537 | XP_016877022.1 | |
XM_017021534.1 | 1782 | Missense Mutation | CAG,CGG | Q,R 375 | XP_016877023.1 | |
XM_017021535.1 | 1782 | Missense Mutation | CAG,CGG | Q,R 316 | XP_016877024.1 | |
XM_017021536.1 | 1782 | Missense Mutation | CAG,CGG | Q,R 316 | XP_016877025.1 | |
XM_017021537.1 | 1782 | Missense Mutation | CAG,CGG | Q,R 316 | XP_016877026.1 | |
XM_017021538.1 | 1782 | Missense Mutation | CAG,CGG | Q,R 316 | XP_016877027.1 | |
XM_017021539.1 | 1782 | Missense Mutation | CAG,CGG | Q,R 316 | XP_016877028.1 | |
XM_017021540.1 | 1782 | Missense Mutation | CAG,CGG | Q,R 316 | XP_016877029.1 | |
XM_017021541.1 | 1782 | Missense Mutation | CAG,CGG | Q,R 316 | XP_016877030.1 | |
XM_017021542.1 | 1782 | Missense Mutation | CAG,CGG | Q,R 316 | XP_016877031.1 | |
XM_017021543.1 | 1782 | Missense Mutation | CAG,CGG | Q,R 316 | XP_016877032.1 | |
XM_017021544.1 | 1782 | UTR 3 | XP_016877033.1 |