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

Question

Useful links:
https://www.pharmgkb.org/
http://www.ncbi.nlm.nih.gov/genome/
What can you find out about SNP: rs1136201

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: Xxx- Aaa-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?

Explanation / Answer

SNP-rs1136201 (Homo sapiens)

Gene: ERBB2/HER2 (human eidermal growth factor receptor 2)

Functional consequence : missense,nc transcript variant

Allele Origin : G(germline)/A(germline)

4. rs1136201 (Homo sapiens) is a SNP within ERBB2/HER2

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