Product Details

SNP ID
rs199960819
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:103115228 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGTTTTGGATAGAACAAGCTCACC[A/G]TGGAAATAAACAGATTAGTAAAGAA
Phenotype
MIM: 603297
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
DYNC2H1 PubMed Links

Gene Details

Gene
DYNC2H1
Gene Name
dynein cytoplasmic 2 heavy chain 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001080463.1 698 Missense Mutation CAT,CGT H185R NP_001073932.1
NM_001377.2 698 Missense Mutation CAT,CGT H185R NP_001368.2
XM_006718903.2 698 Missense Mutation CAT,CGT H185R XP_006718966.1
XM_017018291.1 698 Missense Mutation CAT,CGT H185R XP_016873780.1
XM_017018292.1 698 Intron XP_016873781.1
XM_017018293.1 698 Missense Mutation CAT,CGT H185R XP_016873782.1

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