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ATAACTCTTTTGAACAAACAGACAA[A/T]TTAGCTAGTAGTATGGAGATGTATA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 171060 MIM: 606090 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ABCB4 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
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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ABCB4 - ATP binding cassette subfamily B member 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000443.3 | 3035 | Intron | NP_000434.1 | |||
NM_018849.2 | 3035 | Intron | NP_061337.1 | |||
NM_018850.2 | 3035 | Intron | NP_061338.1 | |||
XM_011516308.2 | 3035 | UTR 3 | XP_011514610.2 | |||
XM_011516309.2 | 3035 | UTR 3 | XP_011514611.2 | |||
XM_011516310.2 | 3035 | UTR 3 | XP_011514612.2 | |||
XM_011516311.2 | 3035 | UTR 3 | XP_011514613.2 | |||
XM_011516312.2 | 3035 | UTR 3 | XP_011514614.2 | |||
XM_011516313.2 | 3035 | Intron | XP_011514615.1 | |||
XM_011516315.2 | 3035 | UTR 3 | XP_011514617.2 | |||
XM_017012323.1 | 3035 | UTR 3 | XP_016867812.1 |
CROT - carnitine O-octanoyltransferase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001143935.1 | 3035 | UTR 3 | NP_001137407.1 | |||
NM_001243745.1 | 3035 | Intron | NP_001230674.1 | |||
NM_021151.3 | 3035 | UTR 3 | NP_066974.2 | |||
XM_011516337.2 | 3035 | Intron | XP_011514639.1 | |||
XM_017012370.1 | 3035 | UTR 3 | XP_016867859.1 |