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. 2001 Jun;11(6):1043–1052. doi: 10.1101/gr.172301

Table 4.

SNPs That Do Not Alter Protein Sequencea

Gene Exon/Intron NT change Position Comments





ACAT2 Ex6 CTG→CTT  609G→Tb
Ex6 CTA→TTA  610C→T 
CH25H Ex1 CTG→CTC   54G→C 
Ex1 AAC→AAT  657C→T 
CLA1 Ex8 GCC→GCT 1050C→T  Acton et al. 1999
LDLR Ex2 TGT→TGC   81T→C  Soutar et al. 1991
EX2 AAC→AAT   90C→T 
Ex10 AGG→AGA 1413G→A  Warnich et al. 1992
Ex11 CCC→CCT 1617C→T  Leren et al. 1992
Ex12 CTC→CTT 1725C→T  Yamakawa et al. 1993
Ex12 AAT→AAC 1773T→C  Chaves et al. 1991
Ex13 GTC→GTT 1959C→T  Hobbs et al. 1987
NR1H2 Ex3 AGC→AGT  297C→T 
S-1-P Ex11 CCC→CCT 1317C→T 
Ex11 CTC→CTT 1407C→T 
In23d GA IVS23+7G→Ac   
SCAP Ex15 ATC→ATA 2031C→A 
Ex20 TCG→TCT 3321G→T 
SREBF-1 In18ad GA IVS18a-10G→A     
In18c CT IVS18c-3C→T    
SREBF-2 Ex1 CTG→CTA   75G→A 
Ex10d GCC→GCT 1782C→T  Identified in A-A control sample
Ex18 CAT→CAC 3105T→C 
Ex18 CGG→AGG 3175C→A 
Ex19 CTG→TTG 3316C→T 
a

The reference is included for SNPs that were described previously. 

b

The A of the initiator ATG is counted +1. Only coding sequence is counted. 

c

Intron mutation (IVS = intervening sequence) is designated by intron number and nucleotide number counted from splice donor site (positive number) or from splice acceptor site (negative number) (Antonarakis 1998). 

d

Not detected by GeneChip probe arrays. SNPs = Single nucleotide polymorphisms.