Product Details

SNP ID
rs121908572
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:218661283 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTTCCACTAAGTTTGAATTTGTCC[C/T]CAGCCCTGGAAACCATTTTATCTGG
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_001079866.1 642 Missense Mutation CCC,CTC P99L NP_001073335.1
NM_001257342.1 642 Missense Mutation CCC,CTC P99L NP_001244271.1
NM_001257343.1 642 Missense Mutation CCC,CTC P99L NP_001244272.1
NM_001257344.1 642 Missense Mutation CCC,CTC P99L NP_001244273.1
NM_001318836.1 642 Intron NP_001305765.1
NM_001320717.1 642 Missense Mutation CCC,CTC P99L NP_001307646.1
NM_004328.4 642 Missense Mutation CCC,CTC P99L NP_004319.1
XM_005246748.2 642 UTR 5 XP_005246805.1
XM_005246749.3 642 Intron XP_005246806.1
XM_006712678.1 642 Missense Mutation CCC,CTC P99L XP_006712741.1
XM_017004631.1 642 Missense Mutation CCC,CTC P99L XP_016860120.1
XM_017004632.1 642 Missense Mutation CCC,CTC P99L XP_016860121.1
XM_017004633.1 642 UTR 5 XP_016860122.1
XM_017004634.1 642 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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