Product Details

SNP ID

rs141346965

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.12:121004439 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCTGACTCCTGTAGGATGTCGGAC[A/G]CCGACACAGCTGCCTCCCGGCACCG

Phenotype

MIM: 142410

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

C12orf43 PubMed Links

Additional Information

For this assay, SNP(s) [rs73214128] are located under a probe and SNP(s) [rs3751150] 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

C12orf43

Gene Name

chromosome 12 open reading frame 43

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286191.1	435	Missense Mutation	GCG,GTG	A199V	NP_001273120.1
NM_001286192.1	435	Missense Mutation	GCG,GTG	A169V	NP_001273121.1
NM_001286195.1	435	Missense Mutation	GCG,GTG	A158V	NP_001273124.1
NM_001286196.1	435	Missense Mutation	GCG,GTG	A157V	NP_001273125.1
NM_001286197.1	435	Missense Mutation	GCG,GTG	A136V	NP_001273126.1
NM_001286198.1	435	Missense Mutation	GCG,GTG	A127V	NP_001273127.1
NM_022895.2	435	Missense Mutation	GCG,GTG	A168V	NP_075046.1
XM_017019829.1	435	Intron			XP_016875318.1

Gene

HNF1A

Gene Name

HNF1 homeobox A

There are no transcripts associated with this gene.

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