Product Details

SNP ID

rs115714636

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.3:52796511 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAATGGCATCGAGGTCTACAGTACC[A/G]AAATCAACTCCAAGGTGACCTCCCG

Phenotype

MIM: 147270 MIM: 146650

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

ITIH1 PubMed Links

Additional Information

For this assay, SNP(s) [rs9816589] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	181	Missense Mutation	AAA,GAA	K49E	NP_002208.3
XM_005265105.4	181	Missense Mutation	AAA,GAA	K49E	XP_005265162.1
XM_017006356.1	181	UTR 5			XP_016861845.1

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