Product Details

SNP ID

rs150075556

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.11:290888 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCAGCTGCAGGCCAGGGGAGCTCT[A/G]TATACGGCTCACGCACAGGCCTGGG

Phenotype

MIM: 614757 MIM: 609650 MIM: 617032

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

IFITM5 PubMed Links

Additional Information

For this assay, SNP(s) [rs72636977] are located under a probe 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

IFITM5

Gene Name

interferon induced transmembrane protein 5

There are no transcripts associated with this gene.

Gene

NLRP6

Gene Name

NLR family pyrin domain containing 6

There are no transcripts associated with this gene.

Gene

PGGHG

Gene Name

protein-glucosylgalactosylhydroxylysine glucosidase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_025092.4	1833	Silent Mutation	CTA,CTG	L227L	NP_079368.3
XM_011520383.2	1833	Silent Mutation	CTA,CTG	L227L	XP_011518685.1
XM_011520384.2	1833	Silent Mutation	CTA,CTG	L227L	XP_011518686.1
XM_011520385.2	1833	Silent Mutation	CTA,CTG	L227L	XP_011518687.1
XM_011520386.2	1833	Silent Mutation	CTA,CTG	L227L	XP_011518688.1
XM_011520387.2	1833	Silent Mutation	CTA,CTG	L227L	XP_011518689.1
XM_017018355.1	1833	Silent Mutation	CTA,CTG	L227L	XP_016873844.1

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