Product Details

SNP ID
rs112644322
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:57530692 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTCTCCAGCTCCCAAATGTGCTCA[A/C]TTTCCCAGCTTCTTCATCCGTTCAT
Phenotype
MIM: 607376
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
DCTN2 PubMed Links

Gene Details

Gene
DCTN2
Gene Name
dynactin subunit 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001261412.1 1471 Missense Mutation AAG,AAT K403N NP_001248341.1
NM_001261413.1 1471 Missense Mutation AAG,AAT K401N NP_001248342.1
NM_006400.4 1471 Missense Mutation AAG,AAT K406N NP_006391.1
XM_011537761.2 1471 Missense Mutation AAG,AAT K314N XP_011536063.1
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 1471 Intron NP_443129.3
XM_005268617.1 1471 Intron XP_005268674.1
XM_005268618.1 1471 Intron XP_005268675.1
XM_005268620.2 1471 Intron XP_005268677.1
XM_006719217.1 1471 Intron XP_006719280.1
XM_006719218.1 1471 Intron XP_006719281.1
XM_011537851.2 1471 Intron XP_011536153.1

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