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Useful links: https://www.pharmgkb.org/ http://www.ncbi.nlm.nih.gov/genome/ What

ID: 141150 • Letter: U

Question

Useful links:

https://www.pharmgkb.org/

http://www.ncbi.nlm.nih.gov/genome/

What can you find out about SNP: rs1136201

1) The SNP occurs within what gene (gene name)?

2) What is the gene ID# of the gene?

3) The gene is located on what chromosome?

4) What type of SNP is rs1136201?

5) What is the difference in sequence for this SNP compared to the reference sequence?

6) Compare the amino acid sequence of the reference gene and the gene containing the SNP. Give the sequence of the two amino acids flanking the mutation site. Example: reference sequence: Xxx-Yyy-Zzz; SNP sequence: XxxAaa-Zzz

7) Is the gene associated with an FDA label genomic warning?

8) What does the warning require to be done?

9) Which two FDA approved therapeutic antibodies target the gene?

10)Does the rs1136201 SNP change the therapeutic response of the patient to treatment?

11)Does the rs1136201 SNP influence side effects, risks or adverse effect in patients?

12)Give the PMID of a paper to support your answer (reference)

13)Give the full citation of the journal article identified in (12)

Explanation / Answer

Please find the answers below:

Answer 1: According to the information, the mutation or SNP arises within the GRCh gene of human origin.

Answer 2: The gene ID for it is: ERBB2 (2064)

Answer 3: The gene is located on chromosome 17.

Answer 4: According to the acquired information, the present mutation is missense in nature.

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