Product Details

SNP ID: rs4252186
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.6:160711183 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: AAAAATGGAGTTCCACTTCTCCCCA[A/C]AGACCTAGGTAAGACATTCCCTTTC
Phenotype: MIM: 173350
Polymorphism: A/C, Transversion substitution
Allele Nomenclature
Literature Links: PLG PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000301.3	511	Intron			NP_000292.1
NM_001168338.1	511	Missense Mutation	CAA,CAC	Q133H	NP_001161810.1