Product Details

SNP ID

rs73214128

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.12:121004438 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCTGACTCCTGTAGGATGTCGGA[C/T]GCCGACACAGCTGCCTCCCGGCACC

Phenotype

MIM: 142410

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

C12orf43 PubMed Links

Additional Information

For this assay, 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	436	Silent Mutation	GCA,GCG	A199A	NP_001273120.1
NM_001286192.1	436	Silent Mutation	GCA,GCG	A169A	NP_001273121.1
NM_001286195.1	436	Silent Mutation	GCA,GCG	A158A	NP_001273124.1
NM_001286196.1	436	Silent Mutation	GCA,GCG	A157A	NP_001273125.1
NM_001286197.1	436	Silent Mutation	GCA,GCG	A136A	NP_001273126.1
NM_001286198.1	436	Silent Mutation	GCA,GCG	A127A	NP_001273127.1
NM_022895.2	436	Silent Mutation	GCA,GCG	A168A	NP_075046.1
XM_017019829.1	436	Intron			XP_016875318.1

Gene

HNF1A

Gene Name

HNF1 homeobox A

There are no transcripts associated with this gene.

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