Product Details

SNP ID
rs200992452
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:84145553 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACCACGGGAGCGCAGGCCGAGGGG[A/G]CTGCAAGGAAGGTGCCGACTGCCCC
Phenotype
MIM: 613190
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
DNAAF1 PubMed Links

Gene Details

Gene
DNAAF1
Gene Name
dynein axonemal assembly factor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001318756.1 294 Intron NP_001305685.1
NM_178452.5 294 Missense Mutation GAC,GGC D38G NP_848547.4
XM_006721129.2 294 Missense Mutation GAC,GGC D38G XP_006721192.1
XM_011522853.2 294 Missense Mutation GAC,GGC D38G XP_011521155.1
XM_011522854.2 294 Missense Mutation GAC,GGC D38G XP_011521156.1
XM_011522855.2 294 Missense Mutation GAC,GGC D38G XP_011521157.1
XM_011522857.2 294 Missense Mutation GAC,GGC D38G XP_011521159.1
XM_011522858.2 294 Missense Mutation GAC,GGC D38G XP_011521160.1
XM_017022918.1 294 Missense Mutation GAC,GGC D38G XP_016878407.1
XM_017022919.1 294 UTR 5 XP_016878408.1
XM_017022920.1 294 Intron XP_016878409.1
XM_017022921.1 294 Intron XP_016878410.1
XM_017022922.1 294 Intron XP_016878411.1
Gene
HSDL1
Gene Name
hydroxysteroid dehydrogenase like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001146051.1 294 Intron NP_001139523.1
NM_031463.4 294 Intron NP_113651.4
XM_005256189.2 294 Intron XP_005256246.1

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