Product Details

SNP ID
rs200273243
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:35090636 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAGGTCTGTGTGGCCATGAGGGCC[A/C]AAGCCGAGACTGCCTGCCATGGCAC
Phenotype
MIM: 614730 MIM: 608292
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
PIGO PubMed Links

Gene Details

Gene
PIGO
Gene Name
phosphatidylinositol glycan anchor biosynthesis class O
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001201484.1 1927 Missense Mutation TGG,TTG W478L NP_001188413.1
NM_032634.3 1927 Missense Mutation TGG,TTG W895L NP_116023.2
NM_152850.3 1927 Missense Mutation TGG,TTG W478L NP_690577.2
XM_005251619.3 1927 Missense Mutation TGG,TTG W895L XP_005251676.1
XM_017015222.1 1927 Missense Mutation TGG,TTG W895L XP_016870711.1
XM_017015223.1 1927 Missense Mutation TGG,TTG W478L XP_016870712.1
XM_017015224.1 1927 Missense Mutation TGG,TTG W478L XP_016870713.1
Gene
STOML2
Gene Name
stomatin like 2
There are no transcripts associated with this gene.

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