Product Details

SNP ID
rs200207984
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:6520023 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGTCTTTGATGATCATGGTCAAC[G/T]GTCTCATGTGCCCTGTGTTGAAAAT
Phenotype
MIM: 615818
Polymorphism
G/T, Transversion 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 2270 Missense Mutation CGG,CTG R569L NP_653267.2
NM_173589.3 2270 Missense Mutation CGG,CTG R569L 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 2270 Intron NP_056139.1
XM_011519955.2 2270 Intron XP_011518257.1
XM_017017423.1 2270 Intron XP_016872912.1

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