Product Details
- SNP ID
-
rs7487855
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.12:32731430 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TGAAGCGGCAAATCAAACGTCTAGA[A/G]GAGCCCAGCCTCCGCTGTGTGGAAC
- Phenotype
-
MIM: 603850
MIM: 610957
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
DNM1L
PubMed Links
Gene Details
- Gene
- DNM1L
- Gene Name
- dynamin 1 like
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001278463.1 |
1439 |
Silent Mutation |
GAA,GAG |
E425E |
NP_001265392.1 |
NM_001278464.1 |
1439 |
Silent Mutation |
GAA,GAG |
E438E |
NP_001265393.1 |
NM_001278465.1 |
1439 |
Silent Mutation |
GAA,GAG |
E438E |
NP_001265394.1 |
NM_001278466.1 |
1439 |
Silent Mutation |
GAA,GAG |
E222E |
NP_001265395.1 |
NM_005690.4 |
1439 |
Silent Mutation |
GAA,GAG |
E425E |
NP_005681.2 |
NM_012062.4 |
1439 |
Silent Mutation |
GAA,GAG |
E425E |
NP_036192.2 |
NM_012063.3 |
1439 |
Silent Mutation |
GAA,GAG |
E425E |
NP_036193.2 |
XM_005253282.4 |
1439 |
Silent Mutation |
GAA,GAG |
E438E |
XP_005253339.1 |
XM_011520543.2 |
1439 |
Silent Mutation |
GAA,GAG |
E438E |
XP_011518845.1 |
XM_011520544.2 |
1439 |
Silent Mutation |
GAA,GAG |
E206E |
XP_011518846.1 |
XM_017018663.1 |
1439 |
Silent Mutation |
GAA,GAG |
E206E |
XP_016874152.1 |
XM_017018664.1 |
1439 |
Silent Mutation |
GAA,GAG |
E206E |
XP_016874153.1 |
XM_017018665.1 |
1439 |
Silent Mutation |
GAA,GAG |
E206E |
XP_016874154.1 |
- Gene
- YARS2
- Gene Name
- tyrosyl-tRNA synthetase 2
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