Product Details

SNP ID

rs3191193

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:119524022 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATGCATACATGAATATATCCACCC[A/C]CCTAGATTTTAAGCAGTAAATAAAA

Phenotype

MIM: 112203 MIM: 615534

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CD80 PubMed Links

Gene Details

Gene

CD80

Gene Name

CD80 molecule

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005191.3	5094	Intron			NP_005182.1
XM_011513327.2	5094	UTR 3			XP_011511629.1
XM_017007520.1	5094	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	5094	UTR 3			NP_057673.2
XM_017006556.1	5094	UTR 3			XP_016862045.1

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