Product Details

SNP ID
rs141658539
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:7719822 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCAGGGCGGGCCACTCGGGCTGCT[A/G]TGGCCACACAGGAGCAGGGGAATGC
Phenotype
MIM: 603333 MIM: 602297
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
DNAH2 PubMed Links

Gene Details

Gene
DNAH2
Gene Name
dynein axonemal heavy chain 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001303270.1 174 Missense Mutation ATG,GTG M30V NP_001290199.1
NM_020877.3 174 Missense Mutation ATG,GTG M30V NP_065928.2
XM_011523663.1 174 Missense Mutation ATG,GTG M30V XP_011521965.1
XM_011523664.2 174 Missense Mutation ATG,GTG M30V XP_011521966.1
XM_011523666.1 174 Missense Mutation ATG,GTG M30V XP_011521968.1
XM_011523667.2 174 Missense Mutation ATG,GTG M30V XP_011521969.1
XM_011523668.1 174 Intron XP_011521970.1
XM_011523669.2 174 Intron XP_011521971.1
XM_011523670.2 174 Missense Mutation ATG,GTG M30V XP_011521972.1
XM_017024218.1 174 Intron XP_016879707.1
XM_017024219.1 174 Missense Mutation ATG,GTG M30V XP_016879708.1
Gene
EFNB3
Gene Name
ephrin B3
There are no transcripts associated with this gene.

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