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ACCTTCTCCAGTGTGCACTGAGAAA[A/G]GCTGTATTCTTCCAGGTTAAAGTTA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612504 MIM: 612507 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ABCA6 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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ABCA6 - ATP binding cassette subfamily A member 6 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_080284.2 | 5216 | Missense Mutation | CTT,TTT | L,F 1577 | NP_525023.2 | |
XM_011524574.2 | 5216 | Missense Mutation | CTT,TTT | L,F 1260 | XP_011522876.1 | |
XM_017024404.1 | 5216 | Missense Mutation | CTT,TTT | L,F 1577 | XP_016879893.1 | |
XM_017024405.1 | 5216 | Missense Mutation | CTT,TTT | L,F 1577 | XP_016879894.1 | |
XM_017024406.1 | 5216 | Missense Mutation | CTT,TTT | L,F 1382 | XP_016879895.1 | |
XM_017024407.1 | 5216 | Missense Mutation | CTT,TTT | L,F 1382 | XP_016879896.1 | |
XM_017024408.1 | 5216 | Missense Mutation | CTT,TTT | L,F 892 | XP_016879897.1 |
ABCA9 - ATP binding cassette subfamily A member 9 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_080283.3 | 5216 | Intron | NP_525022.2 | |||
XM_017024011.1 | 5216 | Intron | XP_016879500.1 | |||
XM_017024012.1 | 5216 | Intron | XP_016879501.1 | |||
XM_017024013.1 | 5216 | Intron | XP_016879502.1 | |||
XM_017024014.1 | 5216 | Intron | XP_016879503.1 | |||
XM_017024015.1 | 5216 | Intron | XP_016879504.1 |