The Singapore Human Mutation
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<< Gene or Locus List >>

ABCA1
OMIM: +600046
Gene Name: ATP-binding cassette, sub-family A (ABC1), member 1

encodes ATP-binding cassette transporter ABCA1; important mediator in phospholipid and cholesterol efflux; first step of reverse cholesterol transport

5 mutations/polymorphisms recorded....
[1] -14C>T : Paper 1
[2] 237indelG : Paper 1
[3] 2476G>A : Paper 1
[4] 2652G>A : Paper 1
[5] 8994A>G : Paper 1



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