Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CAGCAACCATGTTTACCTTTCCTGC[C/T]GAGCAGCCTGGGGGAAAAGCCTCAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612505 | ||||||||||||||||||||
Literature Links: |
ABCA8 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 |
ABCA8 - ATP binding cassette subfamily A member 8 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001288985.1 | 4734 | Missense Mutation | CAG,CGG | Q,R 1541 | NP_001275914.1 | |
NM_001288986.1 | 4734 | Missense Mutation | CAG,CGG | Q,R 1536 | NP_001275915.1 | |
NM_007168.3 | 4734 | Missense Mutation | CAG,CGG | Q,R 1501 | NP_009099.1 | |
XM_005256938.2 | 4734 | Missense Mutation | CAG,CGG | Q,R 1541 | XP_005256995.1 | |
XM_005256940.4 | 4734 | Missense Mutation | CAG,CGG | Q,R 1480 | XP_005256997.1 | |
XM_011524191.2 | 4734 | Intron | XP_011522493.1 | |||
XM_011524192.2 | 4734 | Intron | XP_011522494.1 |