Product Details

SNP ID
rs9878548
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:139356802 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGGAAAAATTGTGAAATCTGAAAG[A/C]CCTTTTTAAGTAGGACTCTTTGCTA
Phenotype
MIM: 606990 MIM: 605810
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
COPB2 PubMed Links

Gene Details

Gene
COPB2
Gene Name
coatomer protein complex subunit beta 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004766.2 4097 Intron NP_004757.1
XM_017007512.1 4097 UTR 3 XP_016863001.1
XM_017007513.1 4097 UTR 3 XP_016863002.1
Gene
MRPS22
Gene Name
mitochondrial ribosomal protein S22
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020191.2 4097 Intron NP_064576.1
XM_005247640.2 4097 Intron XP_005247697.1
XM_006713703.3 4097 Intron XP_006713766.1
XM_011512995.2 4097 Intron XP_011511297.1
XM_011512996.2 4097 Intron XP_011511298.1

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