Human Genetics Laboratory
Synonymous Sequence Polymorphisms
| Location | Description | Change | Consequence | dbSNP rs# (cluster ID) |
Reference |
|---|---|---|---|---|---|
| E-2 | c.9C>T | TCC>TCT | S3S | 29 | |
| E-2 | c.21G>T | CCG>CCT | P7P | 15, 38 | |
| E-2 | c.132C>T | CCC>CCT | P44P | 51 | |
| E-4 | c.369C>T | AGC>AGT | S123S | 26 | |
| E-4 | c.390G>A | A130A | 51a | ||
| E-4 | c.402G>A | GCG>GCA | A134A | 39 | |
| E-5 | c.477C>T | AAC>AAT | N159N | 39 | |
| E-5 | c.510C>G | ACC>ACG | T170T | 39 | |
| E-6 | c.684G>C | CGG>CGC | R228R | rs1801213 |
2,
3,
15,
16, 20, 26, 29, 38, 39, 40, 53 |
| E-7 | c.804C>T | GAC>GAT | D268D | 18 | |
| E-8 | c.882C>T | CAC>CAT | H294H | 15 | |
| E-8 | c.903A>G | GCA>GCG | A310A | 11 | |
| E-8 | c.966C>T | CAC>CAT | H322H | 11 | |
| E-8 | c.975C>T | AAC>AAT | N325N | 15 | |
| E-8 | c.993C>T | TTC>TTT | F331F | 3 | |
| E-8 | c.1023C>T | TTC TTT | F341F |
3,
5,
15,
16, 20, 21, 25, 28, 29, 38, 40 |
|
| E-8 | c.1122T>C | TTC>TTT | F374F | 14 | |
| E-8 | c.1134C>A | ACC>ACA | T378T | 15, 29, 38 | |
| E-8 | c.1143G>A | CTG>CTA | L381L | 29 | |
| E-8 | c.1152C>T | TTC>TTT | F384F | 29, 40 | |
| E-8 | c.1155G>A | GAG>GAA | E385E | 51 | |
| E-8 | c.1158C>T | CCC>CCT | P386P | 29 | |
| E-8 | C.1173G>A | GAG>GAA | E391E | 51 | |
| E-8 | c.1185T>C | GTT>GTC | V395V | rs1801206 |
1-3,
5,
13-16,
18, 20, 21, 28, 29, 38, 39, 40 , 53 |
| E-8 | c.1287C>T | TGC>TGT | C429C | rs1801207 | 1 |
| E-8 | c.1308C>T | ACC>ACA | T436T | 15, 21 | |
| E-8 | c.1350A>G | A450A | 51b | ||
| E-8 | c.1367C>A | CGC>CGA | R456R | 3 | |
| E-8 | c.1375C>T | CTG>TTG | L459L | rs1801209 | 1 |
| E-8 | c.1383C>T | ACC>ACT | T461T | 51 | |
| E-8 | c.1497C>T | CTC>CTT | L499L | 11 | |
| E-8 | c.1500T>C | AAT>AAC | N500N | rs1801214 |
2,
3,
13,
15, 16, 20, 21, 25, 28, 29, 38, 39, 40, 53 |
| E-8 | c.1521T>C | CTC>CTT | L507L | 1 | |
| E-8 | c.1542C>A | CTC>CTA | L514L | 28 | |
| E-8 | c.1645C>T | CTG>TTG | L549L | rs1801211 | 1 |
| E-8 | c.1674C>T | CGC>CGT | R558R | 4 | |
| E-8 | c.1683C>T | ATC>ATT | I561I | 29, 38 | |
| E-8 | c.1686C>T | GGC>GGT | G562G | 40 | |
| E-8 | c.1725C>T | GCC>GCT | A575A | rs2230719 |
3,
5,
15,
20, 21, 28, 29, 38 |
| E-8 | c.1755C>T | TTC>TTT | F585F | rs1801210 | 1 |
| E-8 | c.1761G>T | CGG>CGT | R587R | 3 | |
| E-8 | c.1797C>A | GTC>GTA | V599V | 29 | |
| E-8 | c.1800C>T | ACC>ACT | T600T | 29 | |
| E-8 | c.1938C>T | TTC>TTT | F646F | 26 | |
| E-8 | c.2147C>T | TTC>TTT | F649F | 26 | |
| E-8 | c.2016C>G | C672C | 51c | ||
| E-8 | 2022G>T | GGG>GGT | G674G | 26 | |
| E-8 | c.2052G>A | GCG>GCA | A684A | 15 | |
| E-8 | c.2085C>T | GGC>GGT | G695G | 29 | |
| E-8 | c.2124C>T | CGC>CGT | R708R | 11, 15, 25 | |
| E-8 | c.2184C>T | GGC>GGT | G728G | 29, 38 | |
| E-8 | c.2205C>T | TAC>TAT | Y735Y | 11 | |
| E-8 | c.2247G>A | ACG>ACA | T749T | 29 | |
| E-8 | c.2292C>T | CCC>CCT | P764P | 3 | |
| E-8 | c2316C>T | CGC>CGT | R772R | 11 | |
| E-8 | c.2322G>A | AAG>AAA | K774K | rs2230721 |
3,
15,
16,
20, 21, 25, 29, 38, 40 |
| E-8 | c.2433G>A | AAG>AAA | K811K | rs1046314 |
1-3,
13-16,
18,
20, 21, 25, 26, 28, 29, 38, 39, 40, 53 |
| E-8 | c.2469C>T | ATC>ATT | I823I | rs1801215 | 2, 21, 29, 38 |
| E-8 | c.2565G>A | TCG>TCA | S855S | rs1046316 |
1-3,
5,
13-16,
18, 20, 21, 28, 29, 38, 39, 40, 53 |
| E-8 | c.2598C>T | GAC>GAT | D866D | 11 | |
| E-8 | c.2720C>T | GAC>GAT | D866D | 11 |
aData as reported in manuscript; NCBI reports leucine at position 130
bData as reported in manuscript; NCBI reports histidine at position 450
cData as reported in manuscript; NCBI reports leucine at position 672
