Table 4.
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 | G→A | IVS23+7G→Ac | ||
SCAP | Ex15 | ATC→ATA | 2031C→A | |
Ex20 | TCG→TCT | 3321G→T | ||
SREBF-1 | In18ad | G→A | IVS18a-10G→A | |
In18c | C→T | 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 |
The reference is included for SNPs that were described previously.
The A of the initiator ATG is counted +1. Only coding sequence is counted.
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).
Not detected by GeneChip probe arrays. SNPs = Single nucleotide polymorphisms.