Product Details

SNP ID
rs142045379
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:6431739 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGGGTCCCGACTTCCTTCTCCAGC[C/T]GCTTCGGATAACCGCTTACTAGGGT
Phenotype
MIM: 142290
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
HPX PubMed Links

Gene Details

Gene
HPX
Gene Name
hemopexin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000613.2 1092 Missense Mutation CAG,CGG Q344R NP_000604.1

View Full Product Details