Product Details

SNP ID

rs74592427

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.3:119524523 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACACTGAGAATATAGTTTTACACAG[A/G]AGCAAGGTTTGTGAAGCAGCATAGT

Phenotype

MIM: 112203 MIM: 615534

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

CD80 PubMed Links

Additional Information

For this assay, SNP(s) [rs142483532] 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

CD80

Gene Name

CD80 molecule

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005191.3	4593	UTR 3			NP_005182.1
XM_011513327.2	4593	UTR 3			XP_011511629.1
XM_017007520.1	4593	Intron			XP_016863009.1

Gene

TIMMDC1

Gene Name

translocase of inner mitochondrial membrane domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016589.3	4593	Intron			NP_057673.2
XM_017006556.1	4593	Intron			XP_016862045.1

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