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
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001040436.2 1439 Intron NP_001035526.1

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