Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GAGCAGGCTGAGCAAGCAGCCGAGA[A/G]GGGACTGCAGTGCGGATGGCGGCTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 600047 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ABCA2 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
ABCA2 - ATP binding cassette subfamily A member 2 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001606.4 | 7230 | Missense Mutation | CCT,CTT | P,L 2383 | NP_001597.2 | |
NM_212533.2 | 7230 | Missense Mutation | CCT,CTT | P,L 2413 | NP_997698.1 | |
XM_006716996.3 | 7230 | Missense Mutation | CCT,CTT | P,L 2382 | XP_006717059.1 |