Product Details
- SNP ID
-
rs201030560
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.5:69282841 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCAGCCCACAGAATTTAAAATGCAG[A/T]CACTTGAATGTATAGGATCACCCAA
- Phenotype
-
MIM: 613781
MIM: 601955
- Polymorphism
- A/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
CCDC125
PubMed Links
Gene Details
- Gene
- CCDC125
- Gene Name
- coiled-coil domain containing 125
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001297696.1 |
1399 |
UTR 3 |
|
|
NP_001284625.1 |
NM_001297697.1 |
1399 |
Missense Mutation |
GAC,GTC |
D350V |
NP_001284626.1 |
NM_176816.4 |
1399 |
Missense Mutation |
GAC,GTC |
D475V |
NP_789786.2 |
XM_005248458.4 |
1399 |
Missense Mutation |
GAC,GTC |
D475V |
XP_005248515.1 |
XM_005248459.4 |
1399 |
Missense Mutation |
GAC,GTC |
D474V |
XP_005248516.1 |
XM_005248461.3 |
1399 |
Missense Mutation |
GAC,GTC |
D385V |
XP_005248518.1 |
XM_005248463.3 |
1399 |
Missense Mutation |
GAC,GTC |
D350V |
XP_005248520.1 |
XM_005248464.3 |
1399 |
UTR 3 |
|
|
XP_005248521.1 |
XM_006714569.3 |
1399 |
Missense Mutation |
GAC,GTC |
D470V |
XP_006714632.1 |
XM_006714570.3 |
1399 |
Missense Mutation |
GAC,GTC |
D398V |
XP_006714633.1 |
XM_011543255.2 |
1399 |
Missense Mutation |
GAC,GTC |
D475V |
XP_011541557.1 |
XM_011543256.2 |
1399 |
Missense Mutation |
GAC,GTC |
D475V |
XP_011541558.1 |
XM_011543257.2 |
1399 |
Missense Mutation |
GAC,GTC |
D439V |
XP_011541559.1 |
XM_011543258.2 |
1399 |
Intron |
|
|
XP_011541560.1 |
XM_011543259.2 |
1399 |
Intron |
|
|
XP_011541561.1 |
XM_011543260.2 |
1399 |
Intron |
|
|
XP_011541562.1 |
XM_017009206.1 |
1399 |
Missense Mutation |
GAC,GTC |
D474V |
XP_016864695.1 |
XM_017009207.1 |
1399 |
Intron |
|
|
XP_016864696.1 |
XM_017009208.1 |
1399 |
Missense Mutation |
GAC,GTC |
D402V |
XP_016864697.1 |
XM_017009209.1 |
1399 |
UTR 3 |
|
|
XP_016864698.1 |
XM_017009210.1 |
1399 |
Missense Mutation |
GAC,GTC |
D249V |
XP_016864699.1 |
XM_017009211.1 |
1399 |
Intron |
|
|
XP_016864700.1 |
- Gene
- CDK7
- Gene Name
- cyclin dependent kinase 7
There are no transcripts associated with this gene.
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