Product Details

SNP ID
rs72466496
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:74361590 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCAAAACCAGCCGCACATGAGAAG[G/A]TCACTTTGCCCATGTAGACTGTGTC
Phenotype
MIM: 601143
Polymorphism
G/A, Transition substitution
Allele Nomenclature
Literature Links
DCTN1 PubMed Links

Gene Details

Gene
DCTN1
Gene Name
dynactin subunit 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001135040.2 3712 Missense Mutation ACC,ATC T1224I NP_001128512.1
NM_001135041.2 3712 Missense Mutation ACC,ATC T1110I NP_001128513.1
NM_001190836.1 3712 Missense Mutation ACC,ATC T1207I NP_001177765.1
NM_001190837.1 3712 Missense Mutation ACC,ATC T1242I NP_001177766.1
NM_004082.4 3712 Missense Mutation ACC,ATC T1249I NP_004073.2
NM_023019.3 3712 Missense Mutation ACC,ATC T1115I NP_075408.1

View Full Product Details