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Search Thermo Fisher Scientific
ACTTACCTTCTCCAGTGTGCACTGA[G/T]AAAGGCTGTATTCTTCCAGGTTAAA
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 |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
ABCA6 - ATP binding cassette subfamily A member 6 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_080284.2 | 5220 | Missense Mutation | TAT,TCT | Y,S 1578 | NP_525023.2 | |
XM_011524574.2 | 5220 | Missense Mutation | TAT,TCT | Y,S 1261 | XP_011522876.1 | |
XM_017024404.1 | 5220 | Missense Mutation | TAT,TCT | Y,S 1578 | XP_016879893.1 | |
XM_017024405.1 | 5220 | Missense Mutation | TAT,TCT | Y,S 1578 | XP_016879894.1 | |
XM_017024406.1 | 5220 | Missense Mutation | TAT,TCT | Y,S 1383 | XP_016879895.1 | |
XM_017024407.1 | 5220 | Missense Mutation | TAT,TCT | Y,S 1383 | XP_016879896.1 | |
XM_017024408.1 | 5220 | Missense Mutation | TAT,TCT | Y,S 893 | XP_016879897.1 |
ABCA9 - ATP binding cassette subfamily A member 9 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_080283.3 | 5220 | Intron | NP_525022.2 | |||
XM_017024011.1 | 5220 | Intron | XP_016879500.1 | |||
XM_017024012.1 | 5220 | Intron | XP_016879501.1 | |||
XM_017024013.1 | 5220 | Intron | XP_016879502.1 | |||
XM_017024014.1 | 5220 | Intron | XP_016879503.1 | |||
XM_017024015.1 | 5220 | Intron | XP_016879504.1 |