Product Details

SNP ID
rs143778940
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.16:20933333 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACATAGATGTCCTGATGCAGAAACA[C/T]TGCGCTCTCCCCAGGTTTCAGCCAA
Phenotype
MIM: 603334 MIM: 614709
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
DNAH3 PubMed Links

Gene Details

Gene
DNAH3
Gene Name
dynein axonemal heavy chain 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_017539.2 12750 Missense Mutation NP_060009.1
XM_006721062.1 12750 Missense Mutation XP_006721125.1
XM_011545882.2 12750 Missense Mutation XP_011544184.1
XM_011545883.1 12750 Missense Mutation XP_011544185.1
XM_011545885.2 12750 Intron XP_011544187.1
XM_011545886.2 12750 Missense Mutation XP_011544188.1
XM_011545888.2 12750 Missense Mutation XP_011544190.1
XM_011545889.2 12750 Missense Mutation XP_011544191.1
XM_017023426.1 12750 Missense Mutation XP_016878915.1
XM_017023427.1 12750 Missense Mutation XP_016878916.1
XM_017023428.1 12750 Missense Mutation XP_016878917.1
XM_017023429.1 12750 Intron XP_016878918.1
XM_017023430.1 12750 Missense Mutation XP_016878919.1
XM_017023431.1 12750 Intron XP_016878920.1
XM_017023432.1 12750 Missense Mutation XP_016878921.1
Gene
LYRM1
Gene Name
LYR motif containing 1
There are no transcripts associated with this gene.

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