Product Details

SNP ID
rs202158986
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:218661081 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGTGTGGGCACAGCCCTGGCCCTG[A/G]CCCGGAAGGGTGTCCAACTGGGCCT
Phenotype
MIM: 603647 MIM: 616014 MIM: 604083
Polymorphism
A/G, 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_001079866.1 440 Missense Mutation ACC,GCC T32A NP_001073335.1
NM_001257342.1 440 Missense Mutation ACC,GCC T32A NP_001244271.1
NM_001257343.1 440 Missense Mutation ACC,GCC T32A NP_001244272.1
NM_001257344.1 440 Missense Mutation ACC,GCC T32A NP_001244273.1
NM_001318836.1 440 Intron NP_001305765.1
NM_001320717.1 440 Missense Mutation ACC,GCC T32A NP_001307646.1
NM_004328.4 440 Missense Mutation ACC,GCC T32A NP_004319.1
XM_005246748.2 440 UTR 5 XP_005246805.1
XM_005246749.3 440 Intron XP_005246806.1
XM_006712678.1 440 Missense Mutation ACC,GCC T32A XP_006712741.1
XM_017004631.1 440 Missense Mutation ACC,GCC T32A XP_016860120.1
XM_017004632.1 440 Missense Mutation ACC,GCC T32A XP_016860121.1
XM_017004633.1 440 UTR 5 XP_016860122.1
XM_017004634.1 440 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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