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- SNP ID:
- rs139845006
- Gene
-
COX11STXBP4TOM1L1 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.17: 54970902 - 54970902 on Build GRCh38
- Polymorphism:
- A/G, Transition substitution
- Context Sequence [VIC/FAM]:
TTGTAGCTTTCTACTTTAATAAAAG[A/G]AAATATGCATTGTATCTGATCTTAG
Genomic Map
Back To TopAssay 상세 정보
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 603648
MIM: 610415
MIM: 604701
|
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Literature Links: |
COX11 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap | |||
|---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
| COX11 - COX11, cytochrome c oxidase copper chaperone | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001162861.2 | 123 | Intron | NP_001156333.1 | |||
| NM_001162862.2 | 123 | Intron | NP_001156334.1 | |||
| NM_001321518.1 | 123 | Intron | NP_001308447.1 | |||
| NM_004375.4 | 123 | Intron | NP_004366.1 | |||
| XM_011524342.2 | 123 | UTR 5 | XP_011522644.1 | |||
| XM_017024192.1 | 123 | UTR 5 | XP_016879681.1 | |||
| XM_017024193.1 | 123 | Intron | XP_016879682.1 | |||
| XM_017024194.1 | 123 | Intron | XP_016879683.1 | |||
| XM_017024195.1 | 123 | Intron | XP_016879684.1 | |||
| XM_017024196.1 | 123 | Intron | XP_016879685.1 | |||
| STXBP4 - syntaxin binding protein 4 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_178509.5 | 123 | Intron | NP_848604.3 | |||
| XM_005257187.4 | 123 | Intron | XP_005257244.1 | |||
| XM_006721797.3 | 123 | Intron | XP_006721860.1 | |||
| XM_006721798.3 | 123 | Intron | XP_006721861.1 | |||
| XM_017024410.1 | 123 | Intron | XP_016879899.1 | |||
| XM_017024411.1 | 123 | Intron | XP_016879900.1 | |||
| XM_017024412.1 | 123 | Intron | XP_016879901.1 | |||
| XM_017024413.1 | 123 | Intron | XP_016879902.1 | |||
| XM_017024414.1 | 123 | Intron | XP_016879903.1 | |||
| XM_017024415.1 | 123 | Intron | XP_016879904.1 | |||
| TOM1L1 - target of myb1 like 1 membrane trafficking protein | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
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