Product Details

SNP ID

rs72960294

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:52778011 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGTTTTGCAGAAGCGACAGGCTGT[A/G]GACACCGTGAGTAAGAGTCCTGGCA

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	162	Intron			NP_001159906.1
NM_001166435.2	162	Intron			NP_001159907.1
NM_001166436.2	162	Intron			NP_001159908.1
NM_002215.3	162	Silent Mutation	GTA,GTG	V44V	NP_002206.2

Gene

NEK4

Gene Name

NIMA related kinase 4

There are no transcripts associated with this gene.

View Full Product Details