Product Details

SNP ID
rs140812286
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:218661204 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAGCTGGCTCACCCGCCACAGTACC[C/T]GTACTCAGCACCTCAGTGTCGAGAC
Phenotype
MIM: 603647 MIM: 616014 MIM: 604083
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
BCS1L PubMed Links

Gene Details

Gene
BCS1L
Gene Name
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001079866.1 563 Missense Mutation CGT,TGT R73C NP_001073335.1
NM_001257342.1 563 Missense Mutation CGT,TGT R73C NP_001244271.1
NM_001257343.1 563 Missense Mutation CGT,TGT R73C NP_001244272.1
NM_001257344.1 563 Missense Mutation CGT,TGT R73C NP_001244273.1
NM_001318836.1 563 Intron NP_001305765.1
NM_001320717.1 563 Missense Mutation CGT,TGT R73C NP_001307646.1
NM_004328.4 563 Missense Mutation CGT,TGT R73C NP_004319.1
XM_005246748.2 563 UTR 5 XP_005246805.1
XM_005246749.3 563 Intron XP_005246806.1
XM_006712678.1 563 Missense Mutation CGT,TGT R73C XP_006712741.1
XM_017004631.1 563 Missense Mutation CGT,TGT R73C XP_016860120.1
XM_017004632.1 563 Missense Mutation CGT,TGT R73C XP_016860121.1
XM_017004633.1 563 UTR 5 XP_016860122.1
XM_017004634.1 563 UTR 5 XP_016860123.1
Gene
RNF25
Gene Name
ring finger protein 25
There are no transcripts associated with this gene.

Gene
ZNF142
Gene Name
zinc finger protein 142
There are no transcripts associated with this gene.

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