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GTGCCATCCGTTACCTGGAGGGCCA[A/G]CTGGCCCTGTCGTTCCGCAGCCGTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300371 MIM: 300398 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ABCD1 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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ABCD1 - ATP binding cassette subfamily D member 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000033.3 | 870 | Silent Mutation | CAA,CAG | Q,Q 157 | NP_000024.2 |
BCAP31 - B-cell receptor-associated protein 31 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001139441.1 | 870 | Intron | NP_001132913.1 | |||
NM_001139457.2 | 870 | Intron | NP_001132929.1 | |||
NM_001256447.1 | 870 | Intron | NP_001243376.1 | |||
NM_005745.7 | 870 | Intron | NP_005736.3 |