Product Details
- SNP ID
-
rs144257913
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.5:132862384 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AGGTAAATGAGTATGGAGCTCTGCC[A/G]AGAGTCCTGCTAGAAGACTTTGGCT
- Phenotype
-
MIM: 601918
MIM: 612080
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
GDF9
PubMed Links
Gene Details
- Gene
- GDF9
- Gene Name
- growth differentiation factor 9
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001288824.2 |
596 |
Silent Mutation |
CTC,CTT |
L102L |
NP_001275753.1 |
| NM_001288825.2 |
596 |
Silent Mutation |
CTC,CTT |
L102L |
NP_001275754.1 |
| NM_001288826.2 |
596 |
Silent Mutation |
CTC,CTT |
L102L |
NP_001275755.1 |
| NM_001288827.2 |
596 |
Silent Mutation |
CTC,CTT |
L102L |
NP_001275756.1 |
| NM_001288828.2 |
596 |
Silent Mutation |
CTC,CTT |
L102L |
NP_001275757.1 |
| XM_005271957.4 |
596 |
Silent Mutation |
CTC,CTT |
L102L |
XP_005272014.1 |
| XM_006714585.3 |
596 |
Silent Mutation |
CTC,CTT |
L102L |
XP_006714648.1 |
| XM_011543308.2 |
596 |
Silent Mutation |
CTC,CTT |
L190L |
XP_011541610.1 |
| XM_011543309.1 |
596 |
Silent Mutation |
CTC,CTT |
L102L |
XP_011541611.1 |
| XM_011543310.1 |
596 |
Silent Mutation |
CTC,CTT |
L102L |
XP_011541612.1 |
| XM_011543311.2 |
596 |
Silent Mutation |
CTC,CTT |
L12L |
XP_011541613.1 |
- Gene
- UQCRQ
- Gene Name
- ubiquinol-cytochrome c reductase complex III subunit VII
There are no transcripts associated with this gene.
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