Product Details

SNP ID
rs200795864
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:130356175 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGAAGCGCGGGGCGGCCGGGAGG[C/G]GGCAGTCCTCGCCGGCGAGTTCAGC
Phenotype
MIM: 612981 MIM: 606587
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
IMP4 PubMed Links

Gene Details

Gene
IMP4
Gene Name
IMP4 homolog, U3 small nucleolar ribonucleoprotein
There are no transcripts associated with this gene.

Gene
PTPN18
Gene Name
protein tyrosine phosphatase, non-receptor type 18
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142370.1 120 Missense Mutation GCG,GGG A23G NP_001135842.1
NM_014369.3 120 Missense Mutation GCG,GGG A23G NP_055184.2
XM_006712416.3 120 Missense Mutation GCG,GGG A23G XP_006712479.1
XM_006712417.1 120 Missense Mutation GCG,GGG A23G XP_006712480.1
XM_017003798.1 120 UTR 5 XP_016859287.1

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