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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