Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CATGATCACACTGGAAGTCCCTGCT[C/T]GAGACAGGAGCTATGCCTGGTTGCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603647 MIM: 616014 MIM: 604083 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BCS1L PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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BCS1L - BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001079866.1 | 512 | Nonsense Mutation | CGA,TGA | R,* 56 | NP_001073335.1 | |
NM_001257342.1 | 512 | Nonsense Mutation | CGA,TGA | R,* 56 | NP_001244271.1 | |
NM_001257343.1 | 512 | Nonsense Mutation | CGA,TGA | R,* 56 | NP_001244272.1 | |
NM_001257344.1 | 512 | Nonsense Mutation | CGA,TGA | R,* 56 | NP_001244273.1 | |
NM_001318836.1 | 512 | Intron | NP_001305765.1 | |||
NM_001320717.1 | 512 | Nonsense Mutation | CGA,TGA | R,* 56 | NP_001307646.1 | |
NM_004328.4 | 512 | Nonsense Mutation | CGA,TGA | R,* 56 | NP_004319.1 | |
XM_005246748.2 | 512 | UTR 5 | XP_005246805.1 | |||
XM_005246749.3 | 512 | Intron | XP_005246806.1 | |||
XM_006712678.1 | 512 | Nonsense Mutation | CGA,TGA | R,* 56 | XP_006712741.1 | |
XM_017004631.1 | 512 | Nonsense Mutation | CGA,TGA | R,* 56 | XP_016860120.1 | |
XM_017004632.1 | 512 | Nonsense Mutation | CGA,TGA | R,* 56 | XP_016860121.1 | |
XM_017004633.1 | 512 | UTR 5 | XP_016860122.1 | |||
XM_017004634.1 | 512 | UTR 5 | XP_016860123.1 |
RNF25 - ring finger protein 25 | ||||||
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There are no transcripts associated with this gene. |
ZNF142 - zinc finger protein 142 | ||||||
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There are no transcripts associated with this gene. |