Product Details

SNP ID

rs200000763

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:52777704 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCAGGCCATGCCTGCCCTGGGCT[C/T]GGCTACAGGCAGGTCCAAGAGCAGC

Phenotype

MIM: 147270 MIM: 601959

Polymorphism

C/T, 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	119	Intron			NP_001159906.1
NM_001166435.2	119	Intron			NP_001159907.1
NM_001166436.2	119	Intron			NP_001159908.1
NM_002215.3	119	Missense Mutation	TCG,TTG	S30L	NP_002206.2

Gene

NEK4

Gene Name

NIMA related kinase 4

There are no transcripts associated with this gene.

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