Product Details

SNP ID
rs73621253
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:7707220 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCACAGAGAAGCCTTCCAGGAGAAT[C/T]GGAAGAAATGATGGTAAGTTGACTT
Phenotype
MIM: 146640
Polymorphism
C/T, Transition 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_002216.2 341 Missense Mutation TCG,TTG S60L NP_002207.2

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