Product Details

SNP ID
rs147622852
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:36537747 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCATTAGTCTTCCTAGGAATCGGA[C/T]GATTAGCCATTATAAAATCAATAGG
Phenotype
MIM: 612275 MIM: 610275
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
GGNBP2 PubMed Links

Gene Details

Gene
GGNBP2
Gene Name
gametogenetin binding protein 2
There are no transcripts associated with this gene.

Gene
MYO19
Gene Name
myosin XIX
There are no transcripts associated with this gene.

Gene
PIGW
Gene Name
phosphatidylinositol glycan anchor biosynthesis class W
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_178517.3 945 Nonsense Mutation CGA,TGA R216* NP_848612.2
XM_005257238.2 945 Nonsense Mutation CGA,TGA R216* XP_005257295.1
XM_011524646.2 945 Nonsense Mutation CGA,TGA R216* XP_011522948.1

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