Product Details

SNP ID

rs12939002

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:2061802 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCCCGGGGACCCTCCCCTGCTGGC[C/T]TAGAGAGGGCTGCACTGGGCTTCTG

Phenotype

MIM: 603825 MIM: 610963

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

HIC1 PubMed Links

Additional Information

For this assay, SNP(s) [rs147171693] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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		Intron			NP_001243756.1
NM_001256828.1		Intron			NP_001243757.1
NM_001282326.1		Intron			NP_001269255.1
NM_017575.4		Intron			NP_060045.4
XM_005256569.3		Intron			XP_005256626.1
XM_005256570.3		Intron			XP_005256627.1
XM_005256571.4		Intron			XP_005256628.1
XM_011523769.2		Intron			XP_011522071.1
XM_011523772.2		Intron			XP_011522074.1
XM_011523773.2		Intron			XP_011522075.1
XM_011523774.2		Intron			XP_011522076.1
XM_011523775.2		Intron			XP_011522077.1
XM_017024398.1		Intron			XP_016879887.1
XM_017024399.1		Intron			XP_016879888.1

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