Product Details

SNP ID

rs200009045

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:7703499 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTGAAGTATCAGGCTTCGAAATCC[C/G]CATAAATGGACTTTCTGAAGTAAGT

Phenotype

MIM: 146640

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ITIH2 PubMed Links

Gene Details

Gene

ITIH2

Gene Name

inter-alpha-trypsin inhibitor heavy chain 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002216.2	227	Missense Mutation	CCC,CGC	P22R	NP_002207.2

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