Product Details

SNP ID

rs142318174

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.12:120978923 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGACAAGGGGGAGTCCTGCGGCG[C/G]CGGTCGAGGGGAGCTGGCTGAGCTG

Phenotype

MIM: 142410

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

HNF1A PubMed Links

Additional Information

For this assay, SNP(s) [rs1169288] 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

HNF1A

Gene Name

HNF1 homeobox A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000545.6	356	Missense Mutation	GCC,GGC	A52G	NP_000536.5
NM_001306179.1	356	Missense Mutation	GCC,GGC	A52G	NP_001293108.1
XM_005253931.3	356	Missense Mutation	GCC,GGC	A52G	XP_005253988.1

Gene

HNF1A-AS1

Gene Name

HNF1A antisense RNA 1

There are no transcripts associated with this gene.

View Full Product Details