Product Details

SNP ID
rs185825333
Assay Type
Functionally tested
NCBI dbSNP Submissions
5
Location
Chr.1:53506716 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCCTCGGGGCCGCTGGACACCACA[C/T]CTTCAGATGGCTGCTGTGGCAGCGC
Phenotype
MIM: 610378
Polymorphism
C/T, 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 2053 Missense Mutation GAT,GGT D589G NP_671726.2
XM_017000408.1 2053 Missense Mutation GAT,GGT D764G XP_016855897.1
XM_017000409.1 2053 Missense Mutation GAT,GGT D760G XP_016855898.1
XM_017000410.1 2053 Missense Mutation GAT,GGT D764G XP_016855899.1
XM_017000411.1 2053 UTR 3 XP_016855900.1
XM_017000412.1 2053 Intron XP_016855901.1

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