Product Details

SNP ID

rs138161449

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:52779007 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGGTGACTGCATGGAAGCAGTACC[A/G]GAAAGCAGCTATCTCAGGAGAGAAT

Phenotype

MIM: 147270 MIM: 601959

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ITIH1 PubMed Links

Gene Details

Gene

ITIH1

Gene Name

inter-alpha-trypsin inhibitor heavy chain 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001166434.2	401	UTR 5			NP_001159906.1
NM_001166435.2	401	Intron			NP_001159907.1
NM_001166436.2	401	Intron			NP_001159908.1
NM_002215.3	401	Missense Mutation	CAG,CGG	Q124R	NP_002206.2

Gene

NEK4

Gene Name

NIMA related kinase 4

There are no transcripts associated with this gene.

View Full Product Details