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.

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