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GCAGACACTTGAATGTATAGGATCA[C/T]CCAAAACAGAGAATTCTGAAGTCTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613781 MIM: 601955 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CCDC125 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
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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CCDC125 - coiled-coil domain containing 125 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001297696.1 | 1378 | UTR 3 | NP_001284625.1 | |||
NM_001297697.1 | 1378 | Missense Mutation | GAT,GGT | D,G 343 | NP_001284626.1 | |
NM_176816.4 | 1378 | Missense Mutation | GAT,GGT | D,G 468 | NP_789786.2 | |
XM_005248458.4 | 1378 | Missense Mutation | GAT,GGT | D,G 468 | XP_005248515.1 | |
XM_005248459.4 | 1378 | Missense Mutation | GAT,GGT | D,G 467 | XP_005248516.1 | |
XM_005248461.3 | 1378 | Missense Mutation | GAT,GGT | D,G 378 | XP_005248518.1 | |
XM_005248463.3 | 1378 | Missense Mutation | GAT,GGT | D,G 343 | XP_005248520.1 | |
XM_005248464.3 | 1378 | UTR 3 | XP_005248521.1 | |||
XM_006714569.3 | 1378 | Missense Mutation | GAT,GGT | D,G 463 | XP_006714632.1 | |
XM_006714570.3 | 1378 | Missense Mutation | GAT,GGT | D,G 391 | XP_006714633.1 | |
XM_011543255.2 | 1378 | Missense Mutation | GAT,GGT | D,G 468 | XP_011541557.1 | |
XM_011543256.2 | 1378 | Missense Mutation | GAT,GGT | D,G 468 | XP_011541558.1 | |
XM_011543257.2 | 1378 | Missense Mutation | GAT,GGT | D,G 432 | XP_011541559.1 | |
XM_011543258.2 | 1378 | Intron | XP_011541560.1 | |||
XM_011543259.2 | 1378 | Intron | XP_011541561.1 | |||
XM_011543260.2 | 1378 | Intron | XP_011541562.1 | |||
XM_017009206.1 | 1378 | Missense Mutation | GAT,GGT | D,G 467 | XP_016864695.1 | |
XM_017009207.1 | 1378 | Intron | XP_016864696.1 | |||
XM_017009208.1 | 1378 | Missense Mutation | GAT,GGT | D,G 395 | XP_016864697.1 | |
XM_017009209.1 | 1378 | UTR 3 | XP_016864698.1 | |||
XM_017009210.1 | 1378 | Missense Mutation | GAT,GGT | D,G 242 | XP_016864699.1 | |
XM_017009211.1 | 1378 | Intron | XP_016864700.1 |
CDK7 - cyclin dependent kinase 7 | ||||||
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There are no transcripts associated with this gene. |