Product Details

SNP ID
rs141226599
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:2061532 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCACGTGAGGAAGGCTGGGATGTCC[C/T]GTACAGGAACATTCCTTGTGAGCGC
Phenotype
MIM: 603825 MIM: 610963
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
HIC1 PubMed Links

Gene Details

Gene
HIC1
Gene Name
hypermethylated in cancer 1
There are no transcripts associated with this gene.

Gene
SMG6
Gene Name
SMG6, nonsense mediated mRNA decay factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001256827.1 4473 Missense Mutation CAG,CGG Q499R NP_001243756.1
NM_001256828.1 4473 Missense Mutation CAG,CGG Q499R NP_001243757.1
NM_001282326.1 4473 Missense Mutation CAG,CGG Q318R NP_001269255.1
NM_017575.4 4473 Missense Mutation CAG,CGG Q1407R NP_060045.4
XM_005256569.3 4473 Missense Mutation CAG,CGG Q1376R XP_005256626.1
XM_005256570.3 4473 Intron XP_005256627.1
XM_005256571.4 4473 Missense Mutation CAG,CGG Q499R XP_005256628.1
XM_011523769.2 4473 Missense Mutation CAG,CGG Q1376R XP_011522071.1
XM_011523772.2 4473 Intron XP_011522074.1
XM_011523773.2 4473 Intron XP_011522075.1
XM_011523774.2 4473 Intron XP_011522076.1
XM_011523775.2 4473 Missense Mutation CAG,CGG Q499R XP_011522077.1
XM_017024398.1 4473 Intron XP_016879887.1
XM_017024399.1 4473 Missense Mutation CAG,CGG Q499R XP_016879888.1

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