Product Details

SNP ID
rs201905479
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:218664252 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGGTGTCACGGGTACCTTTAGGG[A/G]CGTGGCACTCCCCTCCCTTTGGGTG
Phenotype
MIM: 603647 MIM: 616014 MIM: 607652 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 1173 Intron NP_001073335.1
NM_001257342.1 1173 Intron NP_001244271.1
NM_001257343.1 1173 Intron NP_001244272.1
NM_001257344.1 1173 Intron NP_001244273.1
NM_001318836.1 1173 Intron NP_001305765.1
NM_001320717.1 1173 Intron NP_001307646.1
NM_004328.4 1173 Intron NP_004319.1
XM_005246748.2 1173 Intron XP_005246805.1
XM_005246749.3 1173 Intron XP_005246806.1
XM_006712678.1 1173 Intron XP_006712741.1
XM_017004631.1 1173 Intron XP_016860120.1
XM_017004632.1 1173 Intron XP_016860121.1
XM_017004633.1 1173 Intron XP_016860122.1
XM_017004634.1 1173 Intron XP_016860123.1
Gene
RNF25
Gene Name
ring finger protein 25
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_022453.2 1173 Missense Mutation GCC,GTC A362V NP_071898.2
XM_017004695.1 1173 Missense Mutation GCC,GTC A250V XP_016860184.1
Gene
STK36
Gene Name
serine/threonine kinase 36
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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