Product Details

SNP ID
rs184882877
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:38722934 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGCGCCCTCCGACAGTGGAGGCCC[C/T]GGCAGAAGATGGTTTCTCTCCTTCC
Phenotype
MIM: 603337
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DNAH8 PubMed Links

Gene Details

Gene
DNAH8
Gene Name
dynein axonemal heavy chain 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001206927.1 245 Missense Mutation CCG,CTG P42L NP_001193856.1
XM_011514318.2 245 Missense Mutation CCG,CTG P42L XP_011512620.1
XM_011514319.2 245 Missense Mutation CCG,CTG P42L XP_011512621.1
XM_011514320.2 245 Missense Mutation CCG,CTG P42L XP_011512622.1
XM_011514321.1 245 Intron XP_011512623.1
XM_017010325.1 245 Missense Mutation CCG,CTG P42L XP_016865814.1
XM_017010326.1 245 Missense Mutation CCG,CTG P42L XP_016865815.1
XM_017010327.1 245 Missense Mutation CCG,CTG P42L XP_016865816.1

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