Product Details

SNP ID
rs147583407
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:13692022 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACAGAAGGGCAACCCCACGGAGCA[C/T]CCAGTGTTCAGGGGTCTGGGCTGTC
Phenotype
MIM: 603335
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DNAH5 PubMed Links

Gene Details

Gene
DNAH5
Gene Name
dynein axonemal heavy chain 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001369.2 9258 Missense Mutation ATG,GTG M4613V NP_001360.1
XM_005248262.3 9258 Missense Mutation ATG,GTG M4649V XP_005248319.2
XM_017009177.1 9258 Missense Mutation ATG,GTG M4509V XP_016864666.1
XM_017009178.1 9258 Missense Mutation ATG,GTG M4284V XP_016864667.1
XM_017009179.1 9258 Missense Mutation ATG,GTG M4284V XP_016864668.1
XM_017009180.1 9258 Intron XP_016864669.1
XM_017009181.1 9258 Intron XP_016864670.1
XM_017009182.1 9258 Intron XP_016864671.1
XM_017009183.1 9258 Intron XP_016864672.1
XM_017009184.1 9258 Intron XP_016864673.1
XM_017009185.1 9258 Missense Mutation ATG,GTG M3012V XP_016864674.1
XM_017009186.1 9258 Missense Mutation ATG,GTG M2863V XP_016864675.1
XM_017009187.1 9258 Intron XP_016864676.1
XM_017009188.1 9258 Missense Mutation ATG,GTG M2642V XP_016864677.1

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