Product Details

SNP ID
rs114325431
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.3:52797914 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCTGGGAAGCGCCCTCACCAAGT[A/C]CTTCTCAGGGAAAAAGGTGATGTAG
Phenotype
MIM: 147270 MIM: 146650
Polymorphism
A/C, Transversion Substitution
Allele Nomenclature
Literature Links
ITIH1 PubMed Links

Gene Details

Gene
ITIH1
Gene Name
inter-alpha-trypsin inhibitor heavy chain 1
There are no transcripts associated with this gene.

Gene
ITIH3
Gene Name
inter-alpha-trypsin inhibitor heavy chain 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002217.3 683 Missense Mutation TAC,TCC Y216S NP_002208.3
XM_005265105.4 683 Missense Mutation TAC,TCC Y216S XP_005265162.1
XM_017006356.1 683 UTR 5 XP_016861845.1

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