Product Details

SNP ID

rs3751152

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:121004261 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TGGTCCCAAGCGACACCTGGTCCCC[A/G]TTGAGCTCACCTGACTTCTGCTTCT

Phenotype

MIM: 142410

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C12orf43 PubMed Links

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	613	Silent Mutation	AAC,AAT	N258N	NP_001273120.1
NM_001286192.1	613	Silent Mutation	AAC,AAT	N228N	NP_001273121.1
NM_001286195.1	613	Silent Mutation	AAC,AAT	N217N	NP_001273124.1
NM_001286196.1	613	Silent Mutation	AAC,AAT	N216N	NP_001273125.1
NM_001286197.1	613	Silent Mutation	AAC,AAT	N195N	NP_001273126.1
NM_001286198.1	613	Silent Mutation	AAC,AAT	N186N	NP_001273127.1
NM_022895.2	613	Silent Mutation	AAC,AAT	N227N	NP_075046.1
XM_017019829.1	613	Intron			XP_016875318.1

Gene

HNF1A

Gene Name

HNF1 homeobox A

There are no transcripts associated with this gene.

View Full Product Details