rs(number) of a SNP

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4.7 years ago

fatma.mokhtar ▴ 20

Hi,

Is there a specific rs(number) for the SNP: LDL receptor Pvu II restriction fragment length polymorphism (RFLP)?

Thank you in advance, Fatma

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ADD COMMENT • link 4.7 years ago by fatma.mokhtar ▴ 20

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In general, rs ids points to a specific genome and coordinate, so 1. which organism? human? 2. which gene? LDL-receptor?

ADD REPLY • link 4.7 years ago by JC 13k

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1- It is a human organism 2-LDL receptor gene (LDLR) I have found it in this article: https://www.ahajournals.org/doi/full/10.1161/01.atv.15.2.208

ADD REPLY • link 4.7 years ago by fatma.mokhtar ▴ 20

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That paper refers to this one https://febs.onlinelibrary.wiley.com/doi/pdf/10.1016/0014-5793%2888%2980635-5, the linked variation is between exon 10 and 17 in LDLR gene, so answering your question, no, there is not a defined dbSNP record for this (RFLP just link a region to a particular phenotype)

ADD REPLY • link 4.7 years ago by JC 13k

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