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- SNP ID:
- rs146206606
- Gene
-
CCDC125CDK7 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.5: 69283018 - 69283018 on Build GRCh38
- Polymorphism:
- G/T, Transversion substitution
- Context Sequence [VIC/FAM]:
AACTTTTCTTTGATGAGCCAAAGCT[G/T]CTTCTTTATCATTAAGCTGCATGCA
Genomic Map
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Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 613781
MIM: 601955
|
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Literature Links: |
CCDC125 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
|
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AMR
|
| CCDC125 - coiled-coil domain containing 125 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001297696.1 | 1222 | UTR 3 | NP_001284625.1 | |||
| NM_001297697.1 | 1222 | Missense Mutation | GAA,GCA | E,A 291 | NP_001284626.1 | |
| NM_176816.4 | 1222 | Missense Mutation | GAA,GCA | E,A 416 | NP_789786.2 | |
| XM_005248458.4 | 1222 | Missense Mutation | GAA,GCA | E,A 416 | XP_005248515.1 | |
| XM_005248459.4 | 1222 | Missense Mutation | GAA,GCA | E,A 415 | XP_005248516.1 | |
| XM_005248461.3 | 1222 | Missense Mutation | GAA,GCA | E,A 326 | XP_005248518.1 | |
| XM_005248463.3 | 1222 | Missense Mutation | GAA,GCA | E,A 291 | XP_005248520.1 | |
| XM_005248464.3 | 1222 | UTR 3 | XP_005248521.1 | |||
| XM_006714569.3 | 1222 | Missense Mutation | GAA,GCA | E,A 411 | XP_006714632.1 | |
| XM_006714570.3 | 1222 | Missense Mutation | GAA,GCA | E,A 339 | XP_006714633.1 | |
| XM_011543255.2 | 1222 | Missense Mutation | GAA,GCA | E,A 416 | XP_011541557.1 | |
| XM_011543256.2 | 1222 | Missense Mutation | GAA,GCA | E,A 416 | XP_011541558.1 | |
| XM_011543257.2 | 1222 | Missense Mutation | GAA,GCA | E,A 380 | XP_011541559.1 | |
| XM_011543258.2 | 1222 | Missense Mutation | GAA,GCA | E,A 416 | XP_011541560.1 | |
| XM_011543259.2 | 1222 | Missense Mutation | GAA,GCA | E,A 416 | XP_011541561.1 | |
| XM_011543260.2 | 1222 | Intron | XP_011541562.1 | |||
| XM_017009206.1 | 1222 | Missense Mutation | GAA,GCA | E,A 415 | XP_016864695.1 | |
| XM_017009207.1 | 1222 | Missense Mutation | GAA,GCA | E,A 411 | XP_016864696.1 | |
| XM_017009208.1 | 1222 | Missense Mutation | GAA,GCA | E,A 343 | XP_016864697.1 | |
| XM_017009209.1 | 1222 | UTR 3 | XP_016864698.1 | |||
| XM_017009210.1 | 1222 | Missense Mutation | GAA,GCA | E,A 190 | XP_016864699.1 | |
| XM_017009211.1 | 1222 | Intron | XP_016864700.1 | |||
| CDK7 - cyclin dependent kinase 7 | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
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