Product Details

SNP ID

rs199803624

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:75481849 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTTTTGCAGACTTGGGACCCAGCA[C/G]TAGCCCAAATTGCAAAAGCATGGGC

Phenotype

MIM: 602692

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

GLIPR1 PubMed Links

Gene Details

Gene

GLIPR1

Gene Name

GLI pathogenesis related 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006851.2	317	Silent Mutation	CTA,GTA	L64V	NP_006842.2
XM_011537775.2	317	Missense Mutation	CTA,GTA	L64V	XP_011536077.1
XM_017018721.1	317	UTR 5			XP_016874210.1

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