Product Details

SNP ID
rs143785511
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:55174992 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGGGAGAAGCAGATGTCCCCAAGC[G/T]TCTCCTGCTGAAAGGAGAGGGGCCC
Phenotype
MIM: 614566 MIM: 602510 MIM: 600782
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
DNAAF3 PubMed Links

Gene Details

Gene
DNAAF3
Gene Name
dynein axonemal assembly factor 3
There are no transcripts associated with this gene.

Gene
PTPRH
Gene Name
protein tyrosine phosphatase, receptor type H
There are no transcripts associated with this gene.

Gene
SYT5
Gene Name
synaptotagmin 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001297774.1 1083 Missense Mutation AAG,ACG K235T NP_001284703.1
NM_003180.2 1083 Missense Mutation AAG,ACG K239T NP_003171.2
XM_006723339.3 1083 Missense Mutation AAG,ACG K239T XP_006723402.1
XM_006723340.3 1083 Missense Mutation AAG,ACG K238T XP_006723403.1
XM_006723341.3 1083 Missense Mutation AAG,ACG K236T XP_006723404.1
XM_017027175.1 1083 Missense Mutation AAG,ACG K239T XP_016882664.1
XM_017027176.1 1083 Missense Mutation AAG,ACG K239T XP_016882665.1

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