Table 4.

SNPs That Do Not Alter Protein Sequence[i]

Gene Exon/Intron NT change Position Comments
ACAT2 Ex6CTG→CTT  609G→T[ii]
Ex6 CTA→TTA 610C→T 
CH25H Ex1CTG→CTC   54G→C 
Ex1AAC→AAT  657C→T 
CLA1 Ex8GCC→GCT 1050C→T  Acton et al. 1999
LDLR Ex2TGT→TGC   81T→C Soutar et al. 1991
EX2AAC→AAT   90C→T 
Ex10AGG→AGA 1413G→A Warnich et al. 1992
Ex11CCC→CCT 1617C→T Leren et al. 1992
Ex12CTC→CTT 1725C→T Yamakawa et al. 1993
Ex12AAT→AAC 1773T→C Chaves et al. 1991
Ex13GTC→GTT 1959C→T  Hobbs et al. 1987
NR1H2 Ex3AGC→AGT  297C→T 
S-1-P Ex11CCC→CCT 1317C→T 
Ex11CTC→CTT 1407C→T 
In23[iv] G→A IVS23+7G→A[iii]   
SCAP Ex15ATC→ATA 2031C→A 
Ex20TCG→TCT 3321G→T 
SREBF-1 In18a[iv] G→A IVS18a-10G→A     
In18c C→T IVS18c-3C→T    
SREBF-2 Ex1CTG→CTA   75G→A 
Ex10[iv] GCC→GCT 1782C→T Identified in A-A control sample
Ex18CAT→CAC 3105T→C 
Ex18 CGG→AGG3175C→A 
Ex19 CTG→TTG3316C→T 

[i] The reference is included for SNPs that were described previously.

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

[iii] 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).

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