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Search Thermo Fisher Scientific
TTTCCAAGGTGGGATAGCCTTTAAG[A/G]AGCCATTCCAATCTGTAGATGTGTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605459 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ABCG5 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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ABCG5 - ATP binding cassette subfamily G member 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_022436.2 | 1167 | Intron | NP_071881.1 | |||
XM_005264480.3 | 1167 | Intron | XP_005264537.1 | |||
XM_006712073.3 | 1167 | Intron | XP_006712136.1 | |||
XM_006712074.3 | 1167 | Intron | XP_006712137.1 | |||
XM_011533024.2 | 1167 | Intron | XP_011531326.1 | |||
XM_011533025.2 | 1167 | Intron | XP_011531327.1 | |||
XM_011533026.2 | 1167 | Intron | XP_011531328.1 | |||
XM_011533027.2 | 1167 | Intron | XP_011531329.1 | |||
XM_011533028.2 | 1167 | Intron | XP_011531330.1 |
DYNC2LI1 - dynein cytoplasmic 2 light intermediate chain 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001193464.1 | 1167 | Intron | NP_001180393.1 | |||
NM_015522.3 | 1167 | Intron | NP_056337.1 | |||
NM_016008.3 | 1167 | Intron | NP_057092.2 | |||
XM_005264364.4 | 1167 | Missense Mutation | AAG,GAG | K,E 364 | XP_005264421.1 | |
XM_005264365.4 | 1167 | Missense Mutation | AAG,GAG | K,E 363 | XP_005264422.1 |