Product Details

SNP ID
rs200477933
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:75481926 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACGGCTGAAGCCACCCCACAAGCT[A/G]CACCCAAACTTCACTTCACTGGGAG
Phenotype
MIM: 602692
Polymorphism
A/G, Transition 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_006851.2 394 Silent Mutation CTA,CTG L89L NP_006842.2
XM_011537775.2 394 Silent Mutation CTA,CTG L89L XP_011536077.1
XM_017018721.1 394 UTR 5 XP_016874210.1

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