Product Details
- SNP ID
-
rs200180697
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.16:84179012 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AGGACGGGTGTGTGCTGCTGGGAGC[A/G]AGTGGCCCGGACGCTGGAGGCCTGG
- Phenotype
-
MIM: 613190
MIM: 604905
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
DNAAF1
PubMed Links
Gene Details
- Gene
- DNAAF1
- Gene Name
- dynein axonemal assembly factor 1
- Gene
- TAF1C
- Gene Name
- TATA-box binding protein associated factor, RNA polymerase I subunit C
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001243156.1 |
2796 |
Missense Mutation |
CGC,TGC |
R821C |
NP_001230085.1 |
NM_001243157.1 |
2796 |
Missense Mutation |
CGC,TGC |
R515C |
NP_001230086.1 |
NM_001243158.1 |
2796 |
Missense Mutation |
CGC,TGC |
R515C |
NP_001230087.1 |
NM_001243159.1 |
2796 |
Missense Mutation |
CGC,TGC |
R438C |
NP_001230088.1 |
NM_001243160.1 |
2796 |
Missense Mutation |
CGC,TGC |
R370C |
NP_001230089.1 |
NM_005679.3 |
2796 |
Missense Mutation |
CGC,TGC |
R847C |
NP_005670.3 |
NM_139353.2 |
2796 |
Missense Mutation |
CGC,TGC |
R753C |
NP_647610.2 |
XM_005256226.3 |
2796 |
Missense Mutation |
CGC,TGC |
R847C |
XP_005256283.1 |
XM_005256227.3 |
2796 |
Missense Mutation |
CGC,TGC |
R780C |
XP_005256284.1 |
XM_006721325.3 |
2796 |
Missense Mutation |
CGC,TGC |
R848C |
XP_006721388.1 |
XM_006721326.3 |
2796 |
Missense Mutation |
CGC,TGC |
R822C |
XP_006721389.1 |
XM_017023845.1 |
2796 |
Missense Mutation |
CGC,TGC |
R821C |
XP_016879334.1 |
XM_017023846.1 |
2796 |
Missense Mutation |
CGC,TGC |
R780C |
XP_016879335.1 |
XM_017023847.1 |
2796 |
Missense Mutation |
CGC,TGC |
R754C |
XP_016879336.1 |
XM_017023848.1 |
2796 |
Missense Mutation |
CGC,TGC |
R515C |
XP_016879337.1 |
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