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TTTTACAGGTAGAATTAGAAGATCA[C/T]GTGATGTTGGAGTAGGAGGGTTTAT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
3 submissions
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Phenotype: |
MIM: 614698 MIM: 602869 | ||||||||||||||||||||
Literature Links: |
COX20 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
COX20 - COX20, cytochrome c oxidase assembly factor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001312871.1 | 442 | Missense Mutation | CGT,TGT | R,C 59 | NP_001299800.1 | |
NM_001312872.1 | 442 | Missense Mutation | CGT,TGT | R,C 71 | NP_001299801.1 | |
NM_001312873.1 | 442 | Missense Mutation | CGT,TGT | R,C 14 | NP_001299802.1 | |
NM_001312874.1 | 442 | Silent Mutation | CAC,CAT | H,H 57 | NP_001299803.1 | |
NM_198076.5 | 442 | Missense Mutation | CGT,TGT | R,C 59 | NP_932342.1 |
HNRNPU - heterogeneous nuclear ribonucleoprotein U | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004501.3 | 442 | Intron | NP_004492.2 | |||
NM_031844.2 | 442 | Intron | NP_114032.2 | |||
XM_017001115.1 | 442 | UTR 3 | XP_016856604.1 | |||
XM_017001116.1 | 442 | UTR 3 | XP_016856605.1 | |||
XM_017001117.1 | 442 | UTR 3 | XP_016856606.1 |