Product Details
- SNP ID
-
rs144885874
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:218661845 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TGAATGGCGTCCCTTTGGCTATCCA[C/T]GCCGCCGGCGACCACTGAATTCTGT
- 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 |
893 |
Missense Mutation |
CGC,TGC |
R183C |
NP_001073335.1 |
| NM_001257342.1 |
893 |
Missense Mutation |
CGC,TGC |
R183C |
NP_001244271.1 |
| NM_001257343.1 |
893 |
Missense Mutation |
CGC,TGC |
R183C |
NP_001244272.1 |
| NM_001257344.1 |
893 |
Missense Mutation |
CGC,TGC |
R183C |
NP_001244273.1 |
| NM_001318836.1 |
893 |
Missense Mutation |
CGC,TGC |
R63C |
NP_001305765.1 |
| NM_001320717.1 |
893 |
Missense Mutation |
CGC,TGC |
R183C |
NP_001307646.1 |
| NM_004328.4 |
893 |
Missense Mutation |
CGC,TGC |
R183C |
NP_004319.1 |
| XM_005246748.2 |
893 |
Missense Mutation |
CGC,TGC |
R16C |
XP_005246805.1 |
| XM_005246749.3 |
893 |
Missense Mutation |
CGC,TGC |
R16C |
XP_005246806.1 |
| XM_006712678.1 |
893 |
Missense Mutation |
CGC,TGC |
R183C |
XP_006712741.1 |
| XM_017004631.1 |
893 |
Missense Mutation |
CGC,TGC |
R183C |
XP_016860120.1 |
| XM_017004632.1 |
893 |
Missense Mutation |
CGC,TGC |
R183C |
XP_016860121.1 |
| XM_017004633.1 |
893 |
Missense Mutation |
CGC,TGC |
R16C |
XP_016860122.1 |
| XM_017004634.1 |
893 |
Missense Mutation |
CGC,TGC |
R16C |
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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