Product Details

SNP ID
rs184949019
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:6519838 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGGAAGAGCAGATAACCTCTTTTG[C/T]GGCCAACATCCTTCAAGTGAGGTGG
Phenotype
MIM: 615818
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DNHD1 PubMed Links

Gene Details

Gene
DNHD1
Gene Name
dynein heavy chain domain 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_144666.2 2195 Missense Mutation GCG,GTG A544V NP_653267.2
NM_173589.3 2195 Missense Mutation GCG,GTG A544V NP_775860.3
Gene
RRP8
Gene Name
ribosomal RNA processing 8, methyltransferase, homolog (yeast)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015324.3 2195 Intron NP_056139.1
XM_011519955.2 2195 Intron XP_011518257.1
XM_017017423.1 2195 Intron XP_016872912.1

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