Product Details

SNP ID
rs143541532
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:40691591 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCTCCCCCCCACCCCGCACCCCTA[A/C]CTCTCCAACACACTGAGAGGCTGGA
Phenotype
MIM: 615567 MIM: 604018
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
COQ8B PubMed Links

Gene Details

Gene
COQ8B
Gene Name
coenzyme Q8B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142555.2 2381 UTR 3 NP_001136027.1
NM_024876.3 2381 UTR 3 NP_079152.3
Gene
NUMBL
Gene Name
NUMB like, endocytic adaptor protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001289979.1 2381 Intron NP_001276908.1
NM_001289980.1 2381 Intron NP_001276909.1
NM_004756.4 2381 Intron NP_004747.1

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