Product Details

SNP ID
rs142007324
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:57524978 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTTTCAACTTTGACCCTTTGGCCC[C/T]GGTGACCCCGGGTGGGGCTGGGGTG
Phenotype
MIM: 607376 MIM: 126337 MIM: 156560 MIM: 614489
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DCTN2 PubMed Links

Gene Details

Gene
DCTN2
Gene Name
dynactin subunit 2
There are no transcripts associated with this gene.

Gene
DDIT3
Gene Name
DNA damage inducible transcript 3
There are no transcripts associated with this gene.

Gene
MARS
Gene Name
methionyl-tRNA synthetase
There are no transcripts associated with this gene.

Gene
MBD6
Gene Name
methyl-CpG binding domain protein 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_052897.3 519 Missense Mutation CCG,CTG P81L NP_443129.3
XM_005268617.1 519 Missense Mutation CCG,CTG P81L XP_005268674.1
XM_005268618.1 519 Missense Mutation CCG,CTG P81L XP_005268675.1
XM_005268620.2 519 Missense Mutation CCG,CTG P81L XP_005268677.1
XM_006719217.1 519 Missense Mutation CCG,CTG P81L XP_006719280.1
XM_006719218.1 519 Missense Mutation CCG,CTG P81L XP_006719281.1
XM_011537851.2 519 Missense Mutation CCG,CTG P81L XP_011536153.1
Gene
MIR616
Gene Name
microRNA 616
There are no transcripts associated with this gene.

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