Product Details

SNP ID

rs114914301

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:6431468 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCAGGTCCAGCCACCACAGCCGCC[A/G]TCCTGGGGAGAAGGCACCAAACATA

Phenotype

MIM: 142290

Polymorphism

A/G, 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	1193	Missense Mutation	CGG,TGG	R378W	NP_000604.1

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