Product Details
- SNP ID
-
rs151148339
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.11:64224816 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TCACCCCGACCTGCAGGGAATGGCC[C/T]TGGTTGGCCCGGATGAGAAGGCCAG
- Phenotype
-
MIM: 604189
MIM: 607901
MIM: 610470
MIM: 601398
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
DNAJC4
PubMed Links
Gene Details
- Gene
- DNAJC4
- Gene Name
- DnaJ heat shock protein family (Hsp40) member C4
There are no transcripts associated with this gene.
- Gene
- FERMT3
- Gene Name
- fermitin family member 3
- Gene
- NUDT22
- Gene Name
- nudix hydrolase 22
There are no transcripts associated with this gene.
- Gene
- TRPT1
- Gene Name
- tRNA phosphotransferase 1
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001033678.3 |
526 |
Silent Mutation |
CAA,CAG |
Q104Q |
NP_001028850.2 |
| NM_001160389.1 |
526 |
Silent Mutation |
CAA,CAG |
Q104Q |
NP_001153861.1 |
| NM_001160390.1 |
526 |
Silent Mutation |
CAA,CAG |
Q104Q |
NP_001153862.1 |
| NM_001160392.1 |
526 |
Silent Mutation |
CAA,CAG |
Q104Q |
NP_001153864.1 |
| NM_001160393.1 |
526 |
Silent Mutation |
CAA,CAG |
Q104Q |
NP_001153865.1 |
| NM_031472.3 |
526 |
Silent Mutation |
CAA,CAG |
Q55Q |
NP_113660.1 |
| XM_005274345.4 |
526 |
Silent Mutation |
CAA,CAG |
Q104Q |
XP_005274402.1 |
| XM_005274346.4 |
526 |
Silent Mutation |
CAA,CAG |
Q104Q |
XP_005274403.1 |
| XM_005274347.4 |
526 |
Silent Mutation |
CAA,CAG |
Q55Q |
XP_005274404.1 |
| XM_006718706.3 |
526 |
Silent Mutation |
CAA,CAG |
Q104Q |
XP_006718769.1 |
| XM_006718707.3 |
526 |
Silent Mutation |
CAA,CAG |
Q104Q |
XP_006718770.1 |
| XM_017018400.1 |
526 |
Silent Mutation |
CAA,CAG |
Q55Q |
XP_016873889.1 |
| XM_017018401.1 |
526 |
Silent Mutation |
CAA,CAG |
Q55Q |
XP_016873890.1 |
- Gene
- VEGFB
- Gene Name
- vascular endothelial growth factor B
There are no transcripts associated with this gene.
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