Product Details

SNP ID
rs142921936
Assay Type
Functionally tested
NCBI dbSNP Submissions
13
Location
Chr.1:53509165 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGAGGCTGTGGTAGCCATTGGGCC[A/G]CAGGGGGTTGAAACCGTGGGTCTCC
Phenotype
MIM: 610378
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
GLIS1 PubMed Links

Gene Details

Gene
GLIS1
Gene Name
GLIS family zinc finger 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_147193.2 2408 Missense Mutation CGG,TGG R554W NP_671726.2
XM_017000408.1 2408 Missense Mutation CGG,TGG R729W XP_016855897.1
XM_017000409.1 2408 Missense Mutation CGG,TGG R725W XP_016855898.1
XM_017000410.1 2408 Missense Mutation CGG,TGG R729W XP_016855899.1
XM_017000411.1 2408 Intron XP_016855900.1
XM_017000412.1 2408 Intron XP_016855901.1

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