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

ID: 141840 • Letter: U

Question

Useful links:

https://www.pharmgkb.org/

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

What can you find out about SNP: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?

Explanation / Answer

1. ATC-----GTC change in A to G

2. Reference ATC ATC TCT SNP sequence ATC GTC TCT

Amino acid sequence IIS Amino acid sequence IVS

3. yes the gene is associated with FDA label genomic warning

4. This label provide pharmacogenetic information about the drug. as pharmacogenomics influence the metabolism and transport of drug. these labels provide information about the:

drug exposure and clinical response variability, genotype-specific dosing, the risk for adverse effects etc.

5. Trastuzumab, carboplatin

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