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AAAAAGCAAAGACACTAACCAAATC[C/T]ATGAGCATCTTAAGGACCTCTTGAG
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
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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_001297697.1 | 1374 | Missense Mutation | ATA,ATG | I,M 283 | NP_001284626.1 | |
NM_176816.4 | 1374 | Missense Mutation | ATA,ATG | I,M 408 | NP_789786.2 | |
XM_005248458.4 | 1374 | Missense Mutation | ATA,ATG | I,M 408 | XP_005248515.1 | |
XM_005248459.4 | 1374 | Missense Mutation | ATA,ATG | I,M 407 | XP_005248516.1 | |
XM_005248461.3 | 1374 | Missense Mutation | ATA,ATG | I,M 318 | XP_005248518.1 | |
XM_005248463.3 | 1374 | Missense Mutation | ATA,ATG | I,M 283 | XP_005248520.1 | |
XM_006714569.3 | 1374 | Missense Mutation | ATA,ATG | I,M 403 | XP_006714632.1 | |
XM_006714570.3 | 1374 | Missense Mutation | ATA,ATG | I,M 331 | XP_006714633.1 | |
XM_011543255.2 | 1374 | Missense Mutation | ATA,ATG | I,M 408 | XP_011541557.1 | |
XM_011543256.2 | 1374 | Missense Mutation | ATA,ATG | I,M 408 | XP_011541558.1 | |
XM_011543257.2 | 1374 | Missense Mutation | ATA,ATG | I,M 372 | XP_011541559.1 | |
XM_011543258.2 | 1374 | Missense Mutation | ATA,ATG | I,M 408 | XP_011541560.1 | |
XM_011543259.2 | 1374 | Missense Mutation | ATA,ATG | I,M 408 | XP_011541561.1 | |
XM_011543260.2 | 1374 | Intron | XP_011541562.1 | |||
XM_017009206.1 | 1374 | Missense Mutation | ATA,ATG | I,M 407 | XP_016864695.1 | |
XM_017009207.1 | 1374 | Missense Mutation | ATA,ATG | I,M 403 | XP_016864696.1 | |
XM_017009208.1 | 1374 | Missense Mutation | ATA,ATG | I,M 335 | XP_016864697.1 | |
XM_017009210.1 | 1374 | Missense Mutation | ATA,ATG | I,M 182 | XP_016864699.1 | |
XM_017009211.1 | 1374 | Intron | XP_016864700.1 |
CDK7 - cyclin dependent kinase 7 | ||||||
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There are no transcripts associated with this gene. |