{{Rsnum
|rsid=147408540
|Chromosome=4
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=LIMCH1
|position=41619350
|Gene_s=LIMCH1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}''*** Could the contributor who created this page indicate (here or on the talk/discussion page) what evidence they feel associates this SNP, rs147408540, to the Ala282Val variant in the IVD gene? SNPedia already contains another SNP - [[rs28940889]] - which is reported to be the IVD Ala282Val SNP, and, this newly entered SNP, [[rs147408540]], maps to chromosome 4 according to dbSNP, instead of to ch 15, which is (correctly mentioned below) as located on ch 15.''


This SNP is associated with the IVD gene (isovaleryl-CoA dehydrogenase) missense substitution mutation variant named p.A311V (variation p.Ala282Val). The p.Ala282Val variant is associated with Isovaleric acidemia. The IVD gene has the cytogenetic location of 15q14-q15; the molecular location is on chromosome 15 (the long (q) arm between positions 14 and 15), base pairs 40697685 to 40713511.

== See also ==
* http://decrypthon.igbmc.fr/msv3d/cgi-bin/mutant?protein=Q9UPQ0&mutation=p.Ala282Val
* http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147408540
* http://ghr.nlm.nih.gov/gene/IVD