SNP rs-number |
Chromosome position§ |
Gene feature |
genotype |
gene model |
m RNA position§ |
Allele change§ |
Protein position§ |
Residue change§ |
rs438480308 |
2:107117145 |
exon 4 |
CC |
missense |
338 |
CTG ⇒ ATG |
89 |
L [Leu] ⇒ M [Met] |
g.107117166A>G |
2:107117166 |
exon 4 |
GG, AG |
missense |
359 |
GCC ⇒ ACC |
96 |
A [Ala] ⇒ T [Thr] |
rs458688926 |
2:107117167 |
exon 4 |
CC, CG |
missense |
360 |
GCC ⇒ GGC |
96 |
A [Ala] ⇒ G [Gly] |
rs478409125 |
2:107117180 |
exon 4 |
CC |
cds-synon |
373 |
GGC ⇒ GGG |
100 |
G [Gly] ⇒ G [Gly] |
rs440590557 |
2:107117280 |
intron 4 |
CC |
N.Dǂ |
18 |
C/A |
|
not found |
rs460647173 |
2:107117291 |
intron 4 |
GG |
N.D. |
29 |
G/C |
|
not found |
rs717758716 |
2:107117300 |
intron 4 |
GG |
N.D. |
38 |
G/T |
|
not found |
rs480706808 |
2:107117321 |
Intron 4 |
AA |
N.D. |
59 |
A/T |
|
not found |
rs449522039 |
2:107117326 |
intron 4 |
AA, AT |
N.D. |
63 |
A/T |
|
not found |
rs469205385 |
2:107117328 |
intron 4 |
GG |
N.D. |
66 |
G/T |
|
not found |
g.107117369C>T |
2:107117369 |
intron 4 |
TT, TC |
N.D. |
107 |
T/C |
|
not found |
rs520905988 |
2:107117380 |
intron 4 |
GG |
N.D. |
118 |
A/G |
|
not found |
rs482869550 |
2:107117389 |
Intron 4 |
AA |
N.D. |
127 |
A/C |
|
not found |
rs445253274 |
2:107117391 |
intron 4 |
GG |
N.D. |
129 |
G/T |
|
not found |
rs465479809 |
2:107117392 |
intron 4 |
GG |
N.D. |
130 |
G/T |
|
not found |
rs433744578 |
2:107117395 |
intron 4 |
GG |
N.D. |
133 |
G/T |
|
not found |
rs453907967 |
2:107117397 |
intron 4 |
GG |
N.D. |
135 |
G/T |
|
not found |
rs524557355 |
2:107117405 |
intron 4 |
CC |
N.D. |
143 |
C/T |
|
not found |
|