Task 7: Research SNPs

Lab journal Task 7

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dbSNP

Results

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

cluster ID	MAF	SNP allel	residue	codon position	aa position
rs114758821	9E-4	G -> A	Pro	3	7
rs147297176	5E-4	C -> T	Phe	3	58
rs147426902	3.2E-3	T -> C	His	3	63
rs62625342	5E-4	C -> T	Ser	3	76
rs148480830	-	C -> G	Ala	3	162
rs182920795	5E-4	T -> A	Pro	3	253
rs201310322	-	C -> T	Pro	3	292
rs114038675	5E-4	G -> A	Glu	3	298
rs148632352	-	T -> C	Val	3	315
rs35201683	6.4E-3	C -> T	Tyr	3	342

Comparison of databases

database	last update	version	what information	where from	# entries homo sapiens	# s SNPs	# ns SNPs	# disease causing SNPs	# SNPs in UTR	total
HGMD
dbSNP	26.06.2012	Build 137			192,678,553	10	41	10	162	213
SNPdbe

Mutation map

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