Product Details

SNP ID
rs148146325
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:74362722 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTCCATAAGTTGGGCCGACGGGCT[C/G]TTGGCAGCTGTGGGGAGAGAAAGCT
Phenotype
MIM: 601143
Polymorphism
C/G, Transversion 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 3503 Silent Mutation AAC,AAG N1154K NP_001128512.1
NM_001135041.2 3503 Silent Mutation AAC,AAG N1040K NP_001128513.1
NM_001190836.1 3503 Silent Mutation AAC,AAG N1137K NP_001177765.1
NM_001190837.1 3503 Silent Mutation AAC,AAG N1172K NP_001177766.1
NM_004082.4 3503 Silent Mutation AAC,AAG N1179K NP_004073.2
NM_023019.3 3503 Silent Mutation AAC,AAG N1045K NP_075408.1

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