Product Details

SNP ID
rs4389515
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:119524112 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATTCATGTGGTCCTTTGAAAGGGT[A/C]TTCTAGAAATCACTGGAAAGAGGAG
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 5004 Intron NP_005182.1
XM_011513327.2 5004 UTR 3 XP_011511629.1
XM_017007520.1 5004 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 5004 UTR 3 NP_057673.2
XM_017006556.1 5004 Intron XP_016862045.1

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