Product Details

SNP ID
rs28937590
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:218661219 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCACAGTACCCGTACTCAGCACCTC[A/G]GTGTCGAGACTTCGTACCTTCAGCA
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_001079866.1 578 Missense Mutation AGT,GGT S78G NP_001073335.1
NM_001257342.1 578 Missense Mutation AGT,GGT S78G NP_001244271.1
NM_001257343.1 578 Missense Mutation AGT,GGT S78G NP_001244272.1
NM_001257344.1 578 Missense Mutation AGT,GGT S78G NP_001244273.1
NM_001318836.1 578 Intron NP_001305765.1
NM_001320717.1 578 Missense Mutation AGT,GGT S78G NP_001307646.1
NM_004328.4 578 Missense Mutation AGT,GGT S78G NP_004319.1
XM_005246748.2 578 UTR 5 XP_005246805.1
XM_005246749.3 578 Intron XP_005246806.1
XM_006712678.1 578 Missense Mutation AGT,GGT S78G XP_006712741.1
XM_017004631.1 578 Missense Mutation AGT,GGT S78G XP_016860120.1
XM_017004632.1 578 Missense Mutation AGT,GGT S78G XP_016860121.1
XM_017004633.1 578 UTR 5 XP_016860122.1
XM_017004634.1 578 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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