Product Details

SNP ID
rs141243190
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:225403349 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACGGTAGGGCACACGCTGACAGTAC[G/T]TTTCCCAAGCCACGCCGTATTTCTT
Phenotype
MIM: 603341 MIM: 600024
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
DNAH14 PubMed Links

Gene Details

Gene
DNAH14
Gene Name
dynein axonemal heavy chain 14
There are no transcripts associated with this gene.

Gene
LBR
Gene Name
lamin B receptor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002296.3 1806 Missense Mutation AAG,ACG K601T NP_002287.2
NM_194442.2 1806 Missense Mutation AAG,ACG K601T NP_919424.1
XM_005273125.2 1806 Missense Mutation AAG,ACG K559T XP_005273182.1
XM_011544185.2 1806 Missense Mutation AAG,ACG K601T XP_011542487.1

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