Product Details

SNP ID
rs144428047
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:54749968 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAGCGCTTCACCAGCCAGCAGGAA[A/G]CCCAGCGGGGCAGCAGCCTTGGTGA
Phenotype
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ITIH6 PubMed Links

Gene Details

Gene
ITIH6
Gene Name
inter-alpha-trypsin inhibitor heavy chain family member 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_198510.2 3899 Missense Mutation GCT,GTT A1290V NP_940912.1

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