Difference between revisions of "Mapping mutations of ARS A"

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(dbSNP)
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=== dbSNP ===
 
=== dbSNP ===
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The "SNP" search for ARSA yielded 123 known human mutations for the protein. These are
   
 
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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