Task 7: Research SNPs

Lab journal Task 7

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HGMD

• What information is given?

HGMD

• How recent?
• Where does the information come from?

dbSNP

• What information is given?
• How recent?
• Where does the information come from?

Results

synonymous SNPS in coding region of isoform 1 human and trainscript variant 1

cluster ID	MAF	SNP allel	residue	codon position	aa position
	9E-4	G -> A	Pro	3	7
	5E-4	C -> T	Phe	3	58
	3.2E-3	T -> C	His	3	63
	5E-4	C -> T	Ser	3	76
	-	C -> G	Ala	3	162
	5E-4	T -> A	Pro	3	253
	-	C -> T	Pro	3	292
	5E-4	G -> A	Glu	3	298
	-	T -> C	Val	3	315
	6.4E-3	C -> T	Tyr	3	342

SNPdbe

• What information is given?
• How recent?
• Where does the information come from?

Mutation map

• What information is given?
• How recent?
• Where does the information come from?