Product Details

SNP ID
rs112294992
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:48362127 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGAGTTATTTCACATCCAGAAGAC[A/G]CATATTTACAGGGGAAAAGTACTGA
Phenotype
MIM: 602212
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
LOC100507577 PubMed Links

Gene Details

Gene
LOC100507577
Gene Name
uncharacterized LOC100507577
There are no transcripts associated with this gene.

Gene
LONP2
Gene Name
lon peptidase 2, peroxisomal
There are no transcripts associated with this gene.

Gene
SIAH1
Gene Name
siah E3 ubiquitin protein ligase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001006610.1 1935 Missense Mutation GCG,GTG A132V NP_001006611.1
NM_003031.3 1935 Missense Mutation GCG,GTG A101V NP_003022.3
XM_006721246.1 1935 Missense Mutation GCG,GTG A101V XP_006721309.1
XM_011523279.1 1935 Missense Mutation GCG,GTG A101V XP_011521581.1

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