Product Details

SNP ID
rs144129895
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:2061582 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTTCACACGCAGGTTCCGGTCATC[C/T]GTCAACAGCACCACCTCCCGCAGTA
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 4423 Silent Mutation ACA,ACG T482T NP_001243756.1
NM_001256828.1 4423 Silent Mutation ACA,ACG T482T NP_001243757.1
NM_001282326.1 4423 Silent Mutation ACA,ACG T301T NP_001269255.1
NM_017575.4 4423 Silent Mutation ACA,ACG T1390T NP_060045.4
XM_005256569.3 4423 Silent Mutation ACA,ACG T1359T XP_005256626.1
XM_005256570.3 4423 Intron XP_005256627.1
XM_005256571.4 4423 Silent Mutation ACA,ACG T482T XP_005256628.1
XM_011523769.2 4423 Silent Mutation ACA,ACG T1359T XP_011522071.1
XM_011523772.2 4423 Intron XP_011522074.1
XM_011523773.2 4423 Intron XP_011522075.1
XM_011523774.2 4423 Intron XP_011522076.1
XM_011523775.2 4423 Silent Mutation ACA,ACG T482T XP_011522077.1
XM_017024398.1 4423 Intron XP_016879887.1
XM_017024399.1 4423 Silent Mutation ACA,ACG T482T XP_016879888.1

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