Product Details

SNP ID
rs118064197
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:7501036 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCGCTGCTTTTCCCAATGGACCCG[C/T]GCTGGGACCGGGAAGAGCGCGTGTC
Phenotype
MIM: 607583
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
C19orf45 PubMed Links

Gene Details

Gene
C19orf45
Gene Name
chromosome 19 open reading frame 45
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_198534.2 355 Missense Mutation CGC,TGC R72C NP_940936.2
XM_005272473.3 355 Missense Mutation CGC,TGC R72C XP_005272530.1
XM_011527993.1 355 Missense Mutation CGC,TGC R72C XP_011526295.1
XM_011527995.2 355 Missense Mutation CGC,TGC R72C XP_011526297.1
Gene
PEX11G
Gene Name
peroxisomal biogenesis factor 11 gamma
There are no transcripts associated with this gene.

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