Genetics Research
rs4148441
Gene: ABCC4 — ATP Binding Cassette Subfamily C Member 4 (PEL Blood Group)
Chr 13:95245953
13q32.1
Intron Variant
Population Frequencies12
African
A 0.06205G 0.93795AA 0.004066AG/GA 0.11596GG 0.879973pop=57,054
African American
A 0.06226G 0.93774AA 0.004072AG/GA 0.116383GG 0.879545pop=55,008
African Others
A 0.0562G 0.9438AA 0.00391AG/GA 0.104594GG 0.891496pop=2,046
Asian
A 0.24323G 0.75677AA 0.060099AG/GA 0.366265GG 0.573636pop=14,110
East Asian
A 0.2424G 0.7576AA 0.059183AG/GA 0.366433GG 0.574384pop=11,118
European
A 0.094008G 0.905992AA 0.009356AG/GA 0.169305GG 0.82134pop=588,088
Latin American 1
A 0.0984G 0.9016AA 0.010369AG/GA 0.176068GG 0.813563pop=9,644
Latin American 2
A 0.18167G 0.81833AA 0.033418AG/GA 0.296509GG 0.670072pop=18,792
Other
A 0.1227G 0.8773AA 0.018712AG/GA 0.207969GG 0.77332pop=21,484
Other Asian
A 0.2463G 0.7537AA 0.063503AG/GA 0.365642GG 0.570856pop=2,992
South Asian
A 0.163G 0.837AA 0.031336AG/GA 0.263266GG 0.705398pop=8,744
Studies10
Unread Studies10 ▼
1
Psychic experiences are widely reported across cultures, yet their potential biological underpinnings remain poorly understood. Survey research suggests such experience …
2
Platelets are derived from fragments formed in the cytoplasm of bone marrow megakaryocytes. Platelet count (PLT) can be altered by factors such as platelet production, destruction, …
3
This study aimed to investigate single-nucleotide polymorphisms (SNPs) associated with lobaplatin-induced thrombocytopenia in patients with advanced lung cancer in China. Thirty-…
4
To understand complex genetic diseases it is necessary to study DNA, its transcription, translation and regulation thereof. In a mechanistic view diseases can be caused by alterations in …
5
ATP-binding cassette (ABC) is a family of transporters that facilitates the translocation of substrates across cell membrane using its ATPase subunit. These transporters have key roles in …
6
… A SNP within the 3’-UTR of ABCC4, rs4148441, was associated with variability in platelet count. Given the SNP’s location in the 3’-UTR, it is possible it has an effect on mRNA stability, …
7
It is well recognized that membrane transporters play an important role in determining plasma and intracellular drug levels and that wide interindividual variation in expression and …
8
Genetic investigations have led to important advances in our knowledge of genes, proteins, and microRNA that influence circulating platelet counts, platelet size, and function. The …
9
Epstein syndrome で認められる. MYH9 の遺伝子は 40 のエクソンから構成され, 1,960 個のアミノ酸 を有する. これまでに約 30 種類の遺伝子変異が報告されている. これら変異は, エクソン 1, 16, …
10
Platelets are anuclear blood cells formed in the bone marrow. In the bloodstream, their primary functions are involvement in hemostasis and immunity. Abnormal platelet count (PLT) is a …
Curated Studies0 ▼
These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.
No curated studies yet.
Unused Studies0 ▼
No unused studies.