Difference between revisions of "Mapping mutations of ARS A"
From Bioinformatikpedia
(→dbSNP) |
(→dbSNP) |
||
| Line 2: | Line 2: | ||
=== dbSNP === |
=== dbSNP === |
||
| + | The "SNP" search for ARSA yielded 123 known human mutations for the protein. These are |
||
{| border="1" style="text-align:center; border-spacing:0;" |
{| border="1" style="text-align:center; border-spacing:0;" |
||
Revision as of 15:45, 15 June 2011
HGMD
dbSNP
The "SNP" search for ARSA yielded 123 known human mutations for the protein. These are
| SNP ID | SNP type | nucleotide (mutation) | amino acid (mutation) | nucleotide (reference) | amino acid (reference) | position |
|---|---|---|---|---|---|---|
| rs6151428 | missense | A | His [H] | G | Arg [R] | 496 |
| rs117341984 | missense | A | Arg [R] | G | Gly [G] | 447 |
| rs6151427 | missense | G | Ser [S] | A | Asn [N] | 440 |
| rs6151425 | synonymous | T | Asp [D] | C | Asp [D] | 381 |
| rs6151422 | missense | G | Val [V] | T | Phe [F] | 356 |
| rs113990230 | synonymous | C | His [H] | T | His [H] | 206 |
| rs62001867 | missense | A | Thr [T] | G | Ala [A] | 205 |
| rs34457249 | synonymous | T | Pro [P] | C | Pro [P] | 195 |
| rs6151415 | missense | T | Cys [C] | G | Trp [W] | 193 |
| rs113209108 | synonymous | T | Ser [S] | C | Ser [S] | 186 |
| rs6151412 | synonymous | T | His [H] | C | His [H] | 151 |
| rs60504011 | missense | G | Ala [A] | C | Pro [P] | 136 |
| rs6151411 | missense | T | Leu [L] | C | Pro [P] | 79 |
